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Understanding The Non-Canonical Regulation Of Srebp In Aspergillus Fumigatus, Muhammad Abubakar Khan May 2024

Understanding The Non-Canonical Regulation Of Srebp In Aspergillus Fumigatus, Muhammad Abubakar Khan

Dartmouth College Ph.D Dissertations

Aspergillus fumigatus is an opportunistic fungal pathogen causing invasive pulmonary aspergillosis (IPA), with high mortality rates in immunocompromised individuals. Adaptation to the hypoxic microenvironment of IPA is crucial for fungal virulence. The transcription factor SrbA, a Sterol Regulatory Element-Binding Protein (SREBP) homolog, plays a key role in this hypoxic response and regulates genes involved in hypoxic growth, sterol biosynthesis, and azole resistance, making it an attractive therapeutic target.

However, SrbA activation in A. fumigatus lacks critical components of the canonical SREBP pathway, such as SCAP, Site-1 protease (S1P), and Site-2 protease (S2P). Instead, the rhomboid protease RbdB, signal peptide peptidase …


Bioactive Glass Bead Characterization: Further Applications In Passive Drug Delivery, Marie O. Sykes May 2024

Bioactive Glass Bead Characterization: Further Applications In Passive Drug Delivery, Marie O. Sykes

Physics and Astronomy Honors Papers

Bioactive glass beads were discovered for their bone repair properties in 1969. This properties, along with their bactericidalness, high ability to be engineered, bioactiveness and their versatile structures, mark them as excellent candidates for explorations in other biomedical applications in addition to bone repair. One alternative application includes passive drug delivery, especially when the biomaterial is in a porous, microsphere structure. In this work, we first explore various samples of bioactive glass compositions and structures in order to target the best bead for the application of drug delivery. The targeted beads are then thoroughly characterized using optical microscopy, Scanning Electron …


Novel Loss-Of-Function Variants Expand Abcc9-Related Intellectual Disability And Myopathy Syndrome, Stephanie Efthymiou, Robert C Tryon, Colin G Nichols, Et Al. May 2024

Novel Loss-Of-Function Variants Expand Abcc9-Related Intellectual Disability And Myopathy Syndrome, Stephanie Efthymiou, Robert C Tryon, Colin G Nichols, Et Al.

2020-Current year OA Pubs

Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we identify nine additional subjects, from seven unrelated families, harbouring different homozygous loss-of-function variants in ABCC9 and presenting with a conserved range of clinical features. All variants are predicted to result in severe truncations or in-frame deletions within SUR2, leading to the generation of non-functional SUR2-dependent KATP channels. Affected individuals show psychomotor delay and intellectual disability of variable severity, microcephaly, corpus callosum and white matter abnormalities, seizures, spasticity, short stature, muscle …


Techno-Economic Optimization Of A Hybrid Energy System With Limited Grid Connection In Pursuit Of Net Zero Carbon Emissions For New Zealand, Daniel Hill, Shafiqur Rahman Tito, Michael Walmsley, John Hedengren May 2024

Techno-Economic Optimization Of A Hybrid Energy System With Limited Grid Connection In Pursuit Of Net Zero Carbon Emissions For New Zealand, Daniel Hill, Shafiqur Rahman Tito, Michael Walmsley, John Hedengren

Faculty Publications

As New Zealand moves towards net zero carbon emissions by 2050, multiple factors must be considered including increased electrical load due to electrification, variability of renewable energy generators, required storage capacity, system economics and limitations on grid transmission capacity. Complex and region-specific interactions between the various design choices involved are likely to require an understanding of a range of optimal and near-optimal designs for proposed micro-grid systems as opposed to a single optimal point. This work develops a novel multiscale optimization algorithm for optimization from a univariate capacity optimization approach to a multivariate one. This enhanced algorithm is applied to …


Sages Guidelines For The Use Of Laparoscopy During Pregnancy, Sunjay S. Kumar, Amelia T. Collings, Claire Wunker, Dimitrios I. Athanasiadis, Colin G. Delong, Julie S. Hong, Mohammed T. Ansari, Ahmed Abou-Setta, Emily Oliver, Vincenzo Berghella, Vamsi Alli, Imran Hassan, Celeste Hollands, Patricia Sylla, Bethany J. Slater, Francesco Palazzo May 2024

Sages Guidelines For The Use Of Laparoscopy During Pregnancy, Sunjay S. Kumar, Amelia T. Collings, Claire Wunker, Dimitrios I. Athanasiadis, Colin G. Delong, Julie S. Hong, Mohammed T. Ansari, Ahmed Abou-Setta, Emily Oliver, Vincenzo Berghella, Vamsi Alli, Imran Hassan, Celeste Hollands, Patricia Sylla, Bethany J. Slater, Francesco Palazzo

Department of Surgery Faculty Papers

BACKGROUND: When pregnant patients present with nonobstetric pathology, the physicians caring for them may be uncertain about the optimal management strategy. The aim of this guideline is to develop evidence-based recommendations for pregnant patients presenting with common surgical pathologies including appendicitis, biliary disease, and inflammatory bowel disease (IBD).

METHODS: The Society of American Gastrointestinal and Endoscopic Surgeons (SAGES) Guidelines Committee convened a working group to address these issues. The group generated five key questions and completed a systematic review and meta-analysis of the literature. An expert panel then met to form evidence-based recommendations according to the Grading of Recommendations Assessment, …


Bengal Memory, Fahim Hamid May 2024

Bengal Memory, Fahim Hamid

Theses and Dissertations

Bengal Memory is a documentary short film, told through an expository and personal lens, about a forgotten genocide that occurred in Bangladesh during its Liberation War, the controversial role that the U.S. government played in it, and how the lives of Bengali people in both the homeland and in the American diaspora were shaped by these events. As a Bangladeshi American and narrator of this story, I traveled to my native country to investigate. My father, Mohammed, had lived through the 1971 war and recounts his memories of the atrocities committed by West Pakistan, which claimed the lives of a …


Feminism And Female Identity In Adaptations Of Pride And Prejudice Throughout The 20th And 21st Centuries, Emily Suh, Emily Suh May 2024

Feminism And Female Identity In Adaptations Of Pride And Prejudice Throughout The 20th And 21st Centuries, Emily Suh, Emily Suh

Honors Theses

To many of her fans in the world, Austen is undeniably a feminist author, especially for her time in the nineteenth century. In a time where women were dependent upon male family members for their livelihoods, most of Austen’s heroines exhibit a sort of independence and strong will with a mind of their own, including in Pride and Prejudice. Elizabeth is the model for what an independent woman is, a woman who is not so concerned with the monetary value of matrimony and only falls in love because she wants to. Furthermore, female audiences tend to like Elizabeth more than …


Good Medicine Vs. The Gender Binary: An Analysis Of Existing Research On The Effects Of Gender-Normalizing Care For Intersex Patients To Determine The Research Gaps That Must Be Filled In Order To Create Inclusive Clinical Guidelines For All Intersex People, Aimee R. Etheridge May 2024

Good Medicine Vs. The Gender Binary: An Analysis Of Existing Research On The Effects Of Gender-Normalizing Care For Intersex Patients To Determine The Research Gaps That Must Be Filled In Order To Create Inclusive Clinical Guidelines For All Intersex People, Aimee R. Etheridge

USF St. Petersburg campus Honors Program Theses (Undergraduate)

This thesis examines the medical treatment of intersex individuals through a public health and critical gender theory lens, evaluating whether current gender-normalizing interventions are evidence-based healthcare practices or reflections of the institutionalized gender binary in Western medicine. The study reviews existing literature on intersex prevalence, contemporary standards of care, the physical and psychological consequences of gender-normalizing surgeries and hormone therapies, and the decision-making processes that guide treatment for intersex children. Findings indicate that many interventions, including genital surgeries and gonadectomies performed during infancy or early childhood, often occur before patients can provide informed consent and may result in long-term complications …


Creation Of An Educational Pamphlet For Patients Receiving Upper Extremity Peripheral Nerve Blocks, Elizabeth Hamlin May 2024

Creation Of An Educational Pamphlet For Patients Receiving Upper Extremity Peripheral Nerve Blocks, Elizabeth Hamlin

Doctor of Nursing Practice Projects

Upper extremity peripheral nerve blocks (PNB) are utilized in anesthesia as a sole anesthetic or in combination with another technique for pain management. Perioperative registered nurses (RN) are directly involved in PNB procedures, patient care, and patient education. Patients typically do not have access to anesthesia personnel to address questions and education preoperatively, leading to increased importance of patient education and educational resources concerning anesthesia. After a literature review, a PowerPoint presentation and patient education pamphlet were implemented at a surgery center in Edwardsville, Illinois. The PowerPoint presentation was created for RN education, and the pamphlet was utilized as a …


Addressing Air Quality Mitigation As A Key Factor In Asthma Management And Prevention, Julia Buckles, Jewel Radford May 2024

Addressing Air Quality Mitigation As A Key Factor In Asthma Management And Prevention, Julia Buckles, Jewel Radford

Doctor of Nursing Practice Projects

Asthma is the most prevalent disease in childhood and disproportionately affects African American (AA) populations in terms of prevalence and frequency of exacerbations. Air quality and environmental factors are strongly associated with the diagnosis and management of asthma and AA children are more likely to live in areas with poor air quality. An air quality flag program was implemented in a daycare located in a county with a predominantly AA population with a high prevalence of asthma diagnoses. The goal of the intervention was to increase staff awareness of air quality and the impact it can have on asthma diagnosis …


The First Draft Genome Of Cold-Water Octocoral Anthothela Grandiflora, The Great Flowerbud Coral, Laurel Humphrey May 2024

The First Draft Genome Of Cold-Water Octocoral Anthothela Grandiflora, The Great Flowerbud Coral, Laurel Humphrey

Honors Scholar Theses

Cold-water corals are important sources of ocean biodiversity, yet populations are increasingly threatened by human activity and climate change. Soft octocorals may endure higher ocean acidification levels in comparison to stony hexacorals, although the mechanisms of octocoral biomineralization are less understood. Building genomic resources for cold-water octocorals could help to close information gaps by elucidating the evolutionary history of octocoral calcification and provide a reference for future studies of adaptation to acidified waters. This report describes the first reference genome for the cold-water octocoral species Anthothela grandiflora found throughout the Atlantic Ocean. Sequencing using Oxford Nanopore Technologies generated 43.6 Gb …


The Molecular Basis Of Maple Syrup Urine Disease, Chloe Jensen May 2024

The Molecular Basis Of Maple Syrup Urine Disease, Chloe Jensen

Senior Honors Theses

Maple syrup urine disease (MSUD) is a rare metabolic disorder that is caused by mutations in the branched chain alpha keto acid dehydrogenase enzyme complex (BCKDC). There are three main genes, the BCKDHA, BCKDHB, and DBT, that affect the BCKDC, all contributing to the onset of the disease. MSUD causes encephalopathy, neural deficits, maple syrup scented urine, coma, and even death if not treated due to the aggregation of branched-chain amino acids (BCAAs). There is currently no known cure for patients with MSUD, but the condition can be managed to improve quality of life. This review serves to examine MSUD …


Thematic Synthesis: Rethinking Generative Music With Compositional Understanding In Game And Software Development, Jasper Moore Tucker May 2024

Thematic Synthesis: Rethinking Generative Music With Compositional Understanding In Game And Software Development, Jasper Moore Tucker

Dartmouth College Master’s Theses

Generative music, first introduced by composers like Brian Eno and David Cope in the mid-to-late 20th century, has evolved through many stages, with diverse applications across music and technology companies as well as the game industry. However, despite this widespread interest, there remains a notable lack of the foundational understanding of composition and individual expressiveness in current generative systems that was apparent in the work of early composers. This paper advocates for a shift towards prioritizing compositional thought in system design to foster greater diversity and innovation within generative music. To demonstrate this approach, a novel system synthesizing two distinct …


Focal Adhesion Kinase-Yap Signaling Axis Drives Drug-Tolerant Persister Cells And Residual Disease In Lung Cancer, Franziska Haderk, Yu-Ting Chou, Lauren Cech, Celia Fernández-Méndez, Johnny Yu, Victor Olivas, Ismail M Meraz, Dora Barbosa Rabago, D Lucas Kerr, Carlos Gomez, David V Allegakoen, Juan Guan, Khyati N Shah, Kari A Herrington, Oghenekevwe M Gbenedio, Shigeki Nanjo, Mourad Majidi, Whitney Tamaki, Yashar K Pourmoghadam, Julia K Rotow, Caroline E Mccoach, Jonathan W Riess, J Silvio Gutkind, Tracy T Tang, Leonard Post, Bo Huang, Pilar Santisteban, Hani Goodarzi, Sourav Bandyopadhyay, Calvin J Kuo, Jeroen P Roose, Wei Wu, Collin M Blakely, Jack A Roth, Trever G Bivona May 2024

Focal Adhesion Kinase-Yap Signaling Axis Drives Drug-Tolerant Persister Cells And Residual Disease In Lung Cancer, Franziska Haderk, Yu-Ting Chou, Lauren Cech, Celia Fernández-Méndez, Johnny Yu, Victor Olivas, Ismail M Meraz, Dora Barbosa Rabago, D Lucas Kerr, Carlos Gomez, David V Allegakoen, Juan Guan, Khyati N Shah, Kari A Herrington, Oghenekevwe M Gbenedio, Shigeki Nanjo, Mourad Majidi, Whitney Tamaki, Yashar K Pourmoghadam, Julia K Rotow, Caroline E Mccoach, Jonathan W Riess, J Silvio Gutkind, Tracy T Tang, Leonard Post, Bo Huang, Pilar Santisteban, Hani Goodarzi, Sourav Bandyopadhyay, Calvin J Kuo, Jeroen P Roose, Wei Wu, Collin M Blakely, Jack A Roth, Trever G Bivona

Faculty, Staff and Student Publications

Targeted therapy is effective in many tumor types including lung cancer, the leading cause of cancer mortality. Paradigm defining examples are targeted therapies directed against non-small cell lung cancer (NSCLC) subtypes with oncogenic alterations in EGFR, ALK and KRAS. The success of targeted therapy is limited by drug-tolerant persister cells (DTPs) which withstand and adapt to treatment and comprise the residual disease state that is typical during treatment with clinical targeted therapies. Here, we integrate studies in patient-derived and immunocompetent lung cancer models and clinical specimens obtained from patients on targeted therapy to uncover a focal adhesion kinase (FAK)-YAP signaling …


Triggering Receptor Expressed On Myeloid Cells 2 (Trem2) Regulates Phagocytosis In Glioblastoma, Mekenzie M Peshoff, Pravesh Gupta, Shivangi Oberai, Rakesh Trivedi, Hiroshi Katayama, Prashanth Chakrapani, Minghao Dang, Simona Migliozzi, Joy Gumin, Divya B Kadri, Jessica K Lin, Nancy K Milam, Mark E Maynard, Brian D Vaillant, Brittany Parker-Kerrigan, Frederick F Lang, Jason T Huse, Antonio Iavarone, Linghua Wang, Karen Clise-Dwyer, Krishna P Bhat May 2024

Triggering Receptor Expressed On Myeloid Cells 2 (Trem2) Regulates Phagocytosis In Glioblastoma, Mekenzie M Peshoff, Pravesh Gupta, Shivangi Oberai, Rakesh Trivedi, Hiroshi Katayama, Prashanth Chakrapani, Minghao Dang, Simona Migliozzi, Joy Gumin, Divya B Kadri, Jessica K Lin, Nancy K Milam, Mark E Maynard, Brian D Vaillant, Brittany Parker-Kerrigan, Frederick F Lang, Jason T Huse, Antonio Iavarone, Linghua Wang, Karen Clise-Dwyer, Krishna P Bhat

Faculty, Staff and Student Publications

Background: Glioblastomas (GBMs) are central nervous system tumors that resist standard-of-care interventions and even immune checkpoint blockade. Myeloid cells in the tumor microenvironment can contribute to GBM progression; therefore, emerging immunotherapeutic approaches include reprogramming these cells to achieve desirable antitumor activity. Triggering receptor expressed on myeloid cells 2 (TREM2) is a myeloid signaling regulator that has been implicated in a variety of cancers and neurological diseases with contrasting functions, but its role in GBM immunopathology and progression is still under investigation.

Methods: Our reverse translational investigations leveraged single-cell RNA sequencing and cytometry of human gliomas to characterize TREM2 expression across …


Autologous Bone Marrow Mononuclear Cells To Treat Severe Traumatic Brain Injury In Children, Charles S Cox, David M Notrica, Jenifer Juranek, Jeffrey H Miller, Fabio Triolo, Steven Kosmach, Sean I Savitz, P David Adelson, Claudia Pedroza, Scott D Olson, Michael C Scott, Akshita Kumar, Benjamin M Aertker, Henry W Caplan, Margaret L Jackson, Brijesh S Gill, Robert A Hetz, Michael S Lavoie, Linda Ewing-Cobbs May 2024

Autologous Bone Marrow Mononuclear Cells To Treat Severe Traumatic Brain Injury In Children, Charles S Cox, David M Notrica, Jenifer Juranek, Jeffrey H Miller, Fabio Triolo, Steven Kosmach, Sean I Savitz, P David Adelson, Claudia Pedroza, Scott D Olson, Michael C Scott, Akshita Kumar, Benjamin M Aertker, Henry W Caplan, Margaret L Jackson, Brijesh S Gill, Robert A Hetz, Michael S Lavoie, Linda Ewing-Cobbs

Faculty, Staff and Student Publications

Autologous bone marrow mononuclear cells (BMMNCs) infused after severe traumatic brain injury have shown promise for treating the injury. We evaluated their impact in children, particularly their hypothesized ability to preserve the blood–brain barrier and diminish neuroinflammation, leading to structural CNS preservation with improved outcomes.

We performed a randomized, double-blind, placebo-sham-controlled Bayesian dose-escalation clinical trial at two children's hospitals in Houston, TX and Phoenix, AZ, USA (NCT01851083). Patients 5–17 years of age with severe traumatic brain injury (Glasgow Coma Scale score ≤ 8) were randomized to BMMNC or placebo (3:2). Bone marrow harvest, cell isolation and infusion were …


Dual Modes Of Dopamine Underly Distinct Facets Of Impulsive Actions, Tzvia Pinkhasov May 2024

Dual Modes Of Dopamine Underly Distinct Facets Of Impulsive Actions, Tzvia Pinkhasov

Arts & Sciences Graduate Student Theses and Dissertations

During the pursuit of basic needs, animals sometimes fail to suppress actions that are maladaptive and counterproductive to their survival. In humans, these actions are often called impulsive because they can incur negative consequences. Impulsivity is ubiquitous across psychiatric disorders and related to debilitating outcomes such as substance abuse, crime and suicidality. Despite its risks, a lack of a neural mechanism understanding of impulsive actions impedes the development of effective treatments.In this dissertation, I set out to bridge the knowledge gained from the parallel fields of neuropsychopharmacology, experimental psychology, and systems neuroscience to uncover neural mechanisms of impulsive actions. Clinicians …


Neuroepigenetic Mechanisms Of Brain Development: From Technology To Biological Insights, Allen Yen May 2024

Neuroepigenetic Mechanisms Of Brain Development: From Technology To Biological Insights, Allen Yen

Arts & Sciences Graduate Student Theses and Dissertations

Each cell in the brain has the same genomic sequence, yet they can have vastly different phenotypes and function. This diversity is a result of complex genetic and signaling pathways, and knowing how these are regulated is key to understanding physiological development and how pathogenic dysfunctions arise. Genomic methods such as chromatin immunoprecipitation followed by sequencing (ChIP-seq) and assay for transposase-accessible chromatin with sequencing (ATAC-seq) have played pivotal roles in dissecting these processes. However, a key limitation is that the cells are destroyed upon observation of their molecular states, which preclude our ability to correlate historical epigenetic information with future …


Help The People Help The Governments Help The Planet: Using Markets To Meet The Goals Of The Paris Agreement, Rachel Braby May 2024

Help The People Help The Governments Help The Planet: Using Markets To Meet The Goals Of The Paris Agreement, Rachel Braby

San Diego International Law Journal

The urgency of the climate challenge requires that we address it in every way we can. Yet, current domestic regulations are insufficient to rise to the occasion, and there appears to be no plan geared toward harnessing the power of collective consumer action to supplement government efforts and push industries in the private sector to engage in greener practices. A majority of developed nations have mixed market-driven economies, and in such economies, consumers have immense power to drive change. Paris Agreement nations with mixed market-driven economies should incorporate a strategic plan in their next NDCs that “represent[s] a progression” beyond …


Risk Of Meningomyelocele Mediated By The Common 22q112 Deletion, Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer Mcevoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto Garcia-Minaur, Beata A Nowakowska, Roger E Stevenson, Maha S Zaki, Hope Northrup, Hanna K Mcnamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, Bernice Morrow, Donna M Mcdonald-Mcginn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson May 2024

Risk Of Meningomyelocele Mediated By The Common 22q112 Deletion, Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer Mcevoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto Garcia-Minaur, Beata A Nowakowska, Roger E Stevenson, Maha S Zaki, Hope Northrup, Hanna K Mcnamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, Bernice Morrow, Donna M Mcdonald-Mcginn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson

Faculty, Staff and Student Publications

Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele. The loss of


Gain-Of-Function And Loss-Of-Function Variants In Gria3 Lead To Distinct Neurodevelopmental Phenotypes, Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda Mcniven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben-Zeev, Simranpreet Kaur, John Christodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke S Møller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen May 2024

Gain-Of-Function And Loss-Of-Function Variants In Gria3 Lead To Distinct Neurodevelopmental Phenotypes, Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda Mcniven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben-Zeev, Simranpreet Kaur, John Christodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke S Møller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen

Faculty, Staff and Students Publications

AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1–GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally.

Here, we evaluated the impact on AMPAR function of one frameshift and 43 rare missense GRIA3 variants identified in patients with NDD by electrophysiological assays. Thirty-one variants alter receptor function and show loss-of-function or gain-of-function properties, whereas 13 appeared neutral.

We collected detailed …


Intermittent Glucocorticoid Treatment Improves Muscle Metabolism Via The Pgc1Α/Lipin1 Axis In An Aging-Related Sarcopenia Model, Ashok D. Prabakaran, Kevin Mcfarland, Karen Miz, Hima Bindu Durumutla, Kevin Piczer, Fadoua El Abdellaoui Soussi, Hannah Latimer, Cole Werbrich, Hyun-Jy Chung, N. Scott Blair, Douglas P. Millay, Andrew J. Morris, Brendan Prideaux, Brian N. Finck, Mattia Quattrocelli May 2024

Intermittent Glucocorticoid Treatment Improves Muscle Metabolism Via The Pgc1Α/Lipin1 Axis In An Aging-Related Sarcopenia Model, Ashok D. Prabakaran, Kevin Mcfarland, Karen Miz, Hima Bindu Durumutla, Kevin Piczer, Fadoua El Abdellaoui Soussi, Hannah Latimer, Cole Werbrich, Hyun-Jy Chung, N. Scott Blair, Douglas P. Millay, Andrew J. Morris, Brendan Prideaux, Brian N. Finck, Mattia Quattrocelli

2020-Current year OA Pubs

Sarcopenia burdens the older population through loss of muscle energy and mass, yet treatments to functionally rescue both parameters are lacking. The glucocorticoid prednisone remodels muscle metabolism on the basis of frequency of intake, but its mechanisms in sarcopenia are unknown. We found that once-weekly intermittent prednisone administration rescued muscle quality in aged 24-month-old mice to a level comparable to that seen in young 4-month-old mice. We discovered an age- and sex-independent glucocorticoid receptor transactivation program in muscle encompassing peroxisome proliferator-activated receptor γ coactivator 1 α (PGC1α) and its cofactor Lipin1. Treatment coordinately improved mitochondrial abundance through isoform 1 and …


Biallelic Borcs8 Variants Cause An Infantile-Onset Neurodegenerative Disorder With Altered Lysosome Dynamics., Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S. Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D. Williamson, Emily Fleming, Dihong Zhou, Jennifer L. Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A. Patten, Emily G. Farrow, Juan S. Bonifacino May 2024

Biallelic Borcs8 Variants Cause An Infantile-Onset Neurodegenerative Disorder With Altered Lysosome Dynamics., Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S. Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D. Williamson, Emily Fleming, Dihong Zhou, Jennifer L. Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A. Patten, Emily G. Farrow, Juan S. Bonifacino

Manuscripts, Articles, Book Chapters and Other Papers

BLOC-one-related complex (BORC) is a multiprotein complex composed of eight subunits named BORCS1-8. BORC associates with the cytosolic face of lysosomes, where it sequentially recruits the small GTPase ARL8 and kinesin-1 and -3 microtubule motors to promote anterograde transport of lysosomes toward the peripheral cytoplasm in non-neuronal cells and the distal axon in neurons. The physiological and pathological importance of BORC in humans, however, remains to be determined. Here, we report the identification of compound heterozygous variants [missense c.85T>C (p.Ser29Pro) and frameshift c.71-75dupTGGCC (p.Asn26Trpfs*51)] and homozygous variants [missense c.196A>C (p.Thr66Pro) and c.124T>C (p.Ser42Pro)] in BORCS8 in five …


New Records Of Mesobuthus Rakhshanii Barahoei, 2022 In Iran (Scorpiones: Buthidae), Ersen A. Yağmur, Zhale Baghernavesi, Zahra Taherkhani, Parsa Akbari, Mohammad Moradi May 2024

New Records Of Mesobuthus Rakhshanii Barahoei, 2022 In Iran (Scorpiones: Buthidae), Ersen A. Yağmur, Zhale Baghernavesi, Zahra Taherkhani, Parsa Akbari, Mohammad Moradi

Euscorpius

Mesobuthus rakhshanii Barahoei, 2022 (Scorpiones: Buthidae) was so far known only from the type locality in Sistan and Baluchestan Province, Iran. We give a list of numerous new records of this species from the same province. A map and detailed illustrations are provided.


The Artist Corner, Vijali Hamilton May 2024

The Artist Corner, Vijali Hamilton

Green Humanities: A Journal of Ecological Thought in Literature, Philosophy & the Arts

No abstract provided.


The Continual Emergence / Of Suppressed Histories, Linda Russo May 2024

The Continual Emergence / Of Suppressed Histories, Linda Russo

Green Humanities: A Journal of Ecological Thought in Literature, Philosophy & the Arts

N/A


Imaginative Acts, Environmental Futurity: Re-Envisioning The Heroic White Male Savior In Snowpiercer, Michelle Yates May 2024

Imaginative Acts, Environmental Futurity: Re-Envisioning The Heroic White Male Savior In Snowpiercer, Michelle Yates

Green Humanities: A Journal of Ecological Thought in Literature, Philosophy & the Arts

In contrast to many Hollywood climate fiction films, Snowpiercer (2013) offers a more complex representation of the white male savior. In contrast to films like WALL-E (2008) and Interstellar (2014) that recuperate and invest in white masculine privilege, Snowpiercer highlights the more destructive aspects of a patriarchal capitalist system that privileges hegemonic white masculinity. While the ending of Snowpiercer may seem bleak, it also points to the possibility of a new system, an environmental futurity that centers indigenous knowledge and the experiences of women and people of color. Though Snowpiercer is not formally an American film, its casting of recognizable …


Issue 442: May 2-16, 2024, The Local Voice May 2024

Issue 442: May 2-16, 2024, The Local Voice

The Local Voice

No abstract provided.


Energy Justice And Sustainable Development, Lakshman Guruswamy May 2024

Energy Justice And Sustainable Development, Lakshman Guruswamy

Colorado Environmental Law Journal

No abstract provided.


The Indiana Statesman, May 2, 2024, Indiana State University May 2024

The Indiana Statesman, May 2, 2024, Indiana State University

Student Newspaper

Trump trial continues into second week; Georgia enforces federal immigration law; LGBTQ youth and suicide