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Neurotransmitter, Summer 2017, George Washington Institute for Neuroscience Neurological Institute, George Washington University Hospital 2017 Himmelfarb Health Sciences Library, The George Washington University

Neurotransmitter, Summer 2017, George Washington Institute For Neuroscience Neurological Institute, George Washington University Hospital

Neurotransmitter

No abstract provided.


Praja Is Overexpressed In Glioblastoma And Contributes To Neural Precursor Development, Joshua Shin, Viveka Mishra, Eric Glasgow, Sobia Zaidi, Kazufumi Ohshiro, Lopa Mishra, Shuyun Rao, +several additional authors 2017 George Washington University

Praja Is Overexpressed In Glioblastoma And Contributes To Neural Precursor Development, Joshua Shin, Viveka Mishra, Eric Glasgow, Sobia Zaidi, Kazufumi Ohshiro, Lopa Mishra, Shuyun Rao, +Several Additional Authors

Medicine Faculty Publications

PRAJA, a RING-H2 E3 ligase, is abundantly expressed in brain tissues such as the cerebellum and frontal cortex, amongst others, and more specifically in neural progenitor cells as well as in multiple cancers that include glioblastomas. However, the specific role that Praja plays in neural development and gliomas remains unclear. In this investigation, we performed bioinformatic analyses to examine Praja1 and Praja2 expression across 29 cancer types, and observed raised levels of Praja1 and Praja2 in gliomas with an inverse relationship between Praja1 and apoptotic genes and Praja substrates such as Smad3. We analyzed the role of Praja in the ...


A Defect In Myoblast Fusion Underlies Carey-Fineman-Ziter Syndrome, S DiGioia, S Connors, N. Matsunami, J Cannavino, M Rose, N Gillette, Andrea Gropman, +several additional authors 2017 George Washington University

A Defect In Myoblast Fusion Underlies Carey-Fineman-Ziter Syndrome, S Digioia, S Connors, N. Matsunami, J Cannavino, M Rose, N Gillette, Andrea Gropman, +Several Additional Authors

Neurology Faculty Publications

Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes. We show that a heterologous cell fusion assay in vitro and allelic complementation ...


Safe And Efficient Silencing With A Pol Ii, But Not A Pol Lii, Promoter Expressing An Artificial Mirna Targeting Human Huntingtin, Edith L. Pfister, Kathryn O. Chase, Huaming Sun, Lori A. Kennington, Faith Conroy, Emily S. Johnson, Rachael Miller, Florie Borel, Neil Aronin, Christian Mueller 2017 University of Massachusetts Medical School

Safe And Efficient Silencing With A Pol Ii, But Not A Pol Lii, Promoter Expressing An Artificial Mirna Targeting Human Huntingtin, Edith L. Pfister, Kathryn O. Chase, Huaming Sun, Lori A. Kennington, Faith Conroy, Emily S. Johnson, Rachael Miller, Florie Borel, Neil Aronin, Christian Mueller

Pediatric Publications and Presentations

Huntington's disease is a devastating, incurable neurodegenerative disease affecting up to 12 per 100,000 patients worldwide. The disease is caused by a mutation in the Huntingtin (Htt) gene. There is interest in reducing mutant Huntingtin by targeting it at the mRNA level, but the maximum tolerable dose and long-term effects of such a treatment are unknown. Using a self-complementary AAV9 vector, we delivered a mir-155-based artificial miRNA under the control of the chicken beta-actin or human U6 promoter. In mouse brain, the artificial miRNA reduced the human huntingtin mRNA by 50%. The U6, but not the CbetaA promoter ...


Evidence That C9orf72 Dipeptide Repeat Proteins Associate With U2 Snrnp To Cause Mis-Splicing In Als/Ftd Patients, Shanye Yin, Rodrigo Lopez-Gonzalez, Ryan C. Kunz, Jaya Gangopadhyay, Carl Borufka, Steven P. Gygi, Fen-Biao Gao, Robin Reed 2017 Harvard Medical School

Evidence That C9orf72 Dipeptide Repeat Proteins Associate With U2 Snrnp To Cause Mis-Splicing In Als/Ftd Patients, Shanye Yin, Rodrigo Lopez-Gonzalez, Ryan C. Kunz, Jaya Gangopadhyay, Carl Borufka, Steven P. Gygi, Fen-Biao Gao, Robin Reed

Open Access Articles

Hexanucleotide repeat expansion in the C9ORF72 gene results in production of dipeptide repeat (DPR) proteins that may disrupt pre-mRNA splicing in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients. At present, the mechanisms underlying this mis-splicing are not understood. Here, we show that addition of proline-arginine (PR) and glycine-arginine (GR) toxic DPR peptides to nuclear extracts blocks spliceosome assembly and splicing, but not other types of RNA processing. Proteomic and biochemical analyses identified the U2 small nuclear ribonucleoprotein particle (snRNP) as a major interactor of PR and GR peptides. In addition, U2 snRNP, but not other splicing factors, mislocalizes ...


A C9orf72 Bac Mouse Model Recapitulates Key Epigenetic Perturbations Of Als/Ftd, Rustam Esanov, Gabriela Toro Cabrera, Nadja S. Andrade, Tania F. Gendron, Robert H. Brown Jr., Michael Benatar, Claes Wahlestedt, Christian Mueller, Zane Zeier 2017 University of Miami

A C9orf72 Bac Mouse Model Recapitulates Key Epigenetic Perturbations Of Als/Ftd, Rustam Esanov, Gabriela Toro Cabrera, Nadja S. Andrade, Tania F. Gendron, Robert H. Brown Jr., Michael Benatar, Claes Wahlestedt, Christian Mueller, Zane Zeier

Pediatric Publications and Presentations

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a fatal and progressive neurodegenerative disorder with identified genetic causes representing a significant minority of all cases. A GGGGCC hexanucleotide repeat expansion (HRE) mutation within the C9ORF72 gene has recently been identified as the most frequent known cause of ALS. The expansion leads to partial heterochromatinization of the locus, yet mutant RNAs and dipeptide repeat proteins (DPRs) are still produced in sufficient quantities to confer neurotoxicity. The levels of these toxic HRE products positively correlate with cellular toxicity and phenotypic severity across multiple disease models. Moreover, the degree of epigenetic repression inversely correlates with ...


An Isogenic Stem Cell Model Of Alzheimer's Disease: Direct Expression Of Amyloid-Beta, Teresa Marie Ubina 2017 California State University - San Bernardino

An Isogenic Stem Cell Model Of Alzheimer's Disease: Direct Expression Of Amyloid-Beta, Teresa Marie Ubina

Electronic Theses, Projects, and Dissertations

Alzheimer’s disease (AD), identified over 100 years ago and intensively studied since the 1970s, has no effective treatments or mechanistic understanding of the underlying neurodegenerative process. Most investigators believe accumulation or aggregation of amyloid beta (Ab) proteins plays a causative role. Aβ peptides (~39-43 residues) are generated by proteolysis of the transmembrane protein APP. One reason we know so little about AD is an incomplete understanding of the cellular mechanisms responsible for Ab proteotoxicity. Human ES and iPSC models of AD are recent additions to many other models used to investigate these mechanisms. AD, however is a chronic progressive ...


Non Communicable Diseases In Pakistan: Burden, Challenges And Way Forward For Health Care Authorities, Mohammad Wasay, Shehla Zaidi, Rashid Jooma 2017 Aga Khan University

Non Communicable Diseases In Pakistan: Burden, Challenges And Way Forward For Health Care Authorities, Mohammad Wasay, Shehla Zaidi, Rashid Jooma

Rashid Jooma

No abstract provided.


Light Dependent Endolysosomal Defects In A Photoreceptor Model Of Alzheimer's Disease, Michelle S. Smith 2017 University of San Diego

Light Dependent Endolysosomal Defects In A Photoreceptor Model Of Alzheimer's Disease, Michelle S. Smith

Undergraduate Honors Theses

Alzheimer’s disease (AD) is a neurodegenerative disease which is the 6th leading cause of death in the US. AD pathology is thought to be linked to the accumulation and aggregation of toxic proteins, amyloid-beta and tau. AD development and neurodegeneration is proposed to be caused by the toxic effects of these protein accumulations, specifically amyloid-beta, as postulated by the amyloid-cascade hypothesis. To study the relationship between amyloid-beta and overall neuronal health, a study was carried out using an amyloid-expressing fruit fly photoreceptor model. Using this model, toxicity of amyloid in a stressed lysosomal system induced by light, an ...


Variable Knowledge, Use And Perceptions Of The Impact Model Among Physicians During Prognostication Meetings For Critically-Ill Traumatic Brain Injury Patients – Results From A Qualitative Study, Jesse Moskowitz, Thomas Quinn, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel 2017 University of Massachusetts Medical School

Variable Knowledge, Use And Perceptions Of The Impact Model Among Physicians During Prognostication Meetings For Critically-Ill Traumatic Brain Injury Patients – Results From A Qualitative Study, Jesse Moskowitz, Thomas Quinn, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel

UMass Center for Clinical and Translational Science Research Retreat

Introduction: The International Patient Decision Aid Standards, a framework for the creation of high-quality decision aids, calls for the presentation of probabilities. To inform the content of a goals-of-care decision aid in critically-ill TBI (ciTBI) patients, we examined physician’s awareness, perceptions, and use of the IMPACT-model, the most widely validated ciTBI outcome model, and explored their preferences for communicating prognostic information towards families.

Methods: We conducted a qualitative study using semi-structured interviews in 20 attending physicians (neurocritical care, neurosurgery, trauma, palliative care) at 7 U.S. academic medical centers. We used descriptive statistics and performed qualitative content analysis of ...


Clot Characterization In Acute Ischemic Stroke, Joshua Litchman, Juyu Chueh, Rose Arslanian, Srinivasan Vedantham, Sarena Carniato, David E. Rex, Mary Howk, Matthew J. Gounis, Ajit S. Puri 2017 University of Massachusetts Medical School

Clot Characterization In Acute Ischemic Stroke, Joshua Litchman, Juyu Chueh, Rose Arslanian, Srinivasan Vedantham, Sarena Carniato, David E. Rex, Mary Howk, Matthew J. Gounis, Ajit S. Puri

UMass Center for Clinical and Translational Science Research Retreat

Background: In the treatment of acute ischemic stroke (AIS) with mechanical thrombectomy, revascularization depends upon integration of the thrombus into the retrieval device. The histologic and mechanical characteristics of thrombi are key determinants of effective thrombus-device interaction. Thrombi with greater calcium and fibrin content have been associated with more challenging thrombus retrievals.

Objective: To develop thrombus analogs with histologic and mechanical characteristics similar to those of challenging clinical thrombi for thrombectomy device testing.

Methods: Fifty thrombi were retrieved from twenty-nine patients with AIS. Clinical thrombi underwent histologic analysis to determine erythrocyte and fibrin content. Nine clinical thrombi underwent dynamic mechanical ...


Macroglossia In Inclusion Body Myositis, Jatinder S. Patti, Kate Daniello, Lan Qin 2017 University of Massachusetts Medical School

Macroglossia In Inclusion Body Myositis, Jatinder S. Patti, Kate Daniello, Lan Qin

UMass Center for Clinical and Translational Science Research Retreat

OBJECTIVE: Discussion of a case of Inclusion body myositis (IBM) associated with macroglossia.

INTRODUCTION: IBM is one of the idiopathic inflammatory myopathies. Exact pathogenesis is unclear but there is an evidence of dysregulation of antigen driven immune response involving T cells. Typical onset is slowly progressive impacting quadriceps often more than hip flexors, ankle dorsiflexors and distal forearm flexor muscles. Swallowing difficulties often are present and mild facial weakness can be seen. Macroglossia has never been reported in association with IBM. In fact inflammatory myopathies of tongue are a rarity.

DESIGN: A case report of a 68 year old woman ...


Dermatomyositis As Paraneoplastic Manifestation Of Tonsillar Squamous Cell Carcinoma, Jatinder S. Patti, Kate Daniello, Lan Qin 2017 University of Massachusetts Medical School

Dermatomyositis As Paraneoplastic Manifestation Of Tonsillar Squamous Cell Carcinoma, Jatinder S. Patti, Kate Daniello, Lan Qin

UMass Center for Clinical and Translational Science Research Retreat

OBJECTIVE: Discussion of a rare case of dermatomyositis associated with tonsillar neoplasm in an African American woman.

BACKGROUND: Dermatomyositis is a syndrome of inflamatory myopathy with multiorgan manifestations which has been linked to immune dysregulation and neoplasia.

INTRODUCTION: Many studies have shown five to seven fold increased risk of developing malignancy with dermatomyositis within two years of presentation. Most common cancers reported are adenocarcinomas of lung, breast, ovaries, stomach, pancreas and bladder. Dermatomyositis as a paraneoplastic manifestation of tonsillar squamous cell carcinoma has not previously been described.

DESIGN: This is a case report of a 52 year old woman who ...


“Can’T You Just Say?” – Contrasting Communication Preferences Between Surrogate Decision-Makers And Physicians During Outcome Prognostication In Critically-Ill Traumatic Brain Injury Patients, Thomas Quinn, Jesse Moskowitz, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel 2017 University of Massachusetts Medical School

“Can’T You Just Say?” – Contrasting Communication Preferences Between Surrogate Decision-Makers And Physicians During Outcome Prognostication In Critically-Ill Traumatic Brain Injury Patients, Thomas Quinn, Jesse Moskowitz, Muhammad Khan, Lori Shutter, Robert J. Goldberg, Nananda Col, Kathleen M. Mazor, Susanne Muehlschlegel

UMass Center for Clinical and Translational Science Research Retreat

Objective: Surrogate decision-makers (“surrogates”) and physicians of incapacitated patients have different views of prognosis and how it should be communicated, but this has not been investigated in neurocritically-ill patients. We examined communication preferences in surrogates and physician practices during the outcome prognostication for critically-ill traumatic brain injury (ciTBI) patients in neuroICUs.

Design: Qualitative study using in-person semi-structured interviews with surrogates of ciTBI patients and physicians with expertise in TBI.

Setting: Two neuroICUs at two level-1 trauma centers (surrogates); seven academic U.S. medical centers (physicians).

Subjects: Sixteen surrogates for 15 ciTBI patients and 20 attending physicians from neurocritical care, neurosurgery ...


An Innovative Nurse-Managed Transition Clinic For Adolescents And Young Adults With Spina Bifida: A Pilot Study, Mohammad Alkawaldeh, Rebecca Sherlock, Estranda Carlos, Erika Alkhawaldeh 2017 University of Massachusetts Amherst

An Innovative Nurse-Managed Transition Clinic For Adolescents And Young Adults With Spina Bifida: A Pilot Study, Mohammad Alkawaldeh, Rebecca Sherlock, Estranda Carlos, Erika Alkhawaldeh

UMass Center for Clinical and Translational Science Research Retreat

Background. Transition from pediatric to adult care for patients with complex illness is challenging. The Spina Bifida Center at Boston Children’s Hospital (SBC) has approximately 650 patients, of which 25% (N=162) are ≥ 18 years of age. The SBC has not had a structured paradigm for successful transition. A first transition clinic with our pediatric and adult care urology partners was initiated in August 2016.

Methods. A 20 question (TRAQ: Transition Readiness Assessment Questionnaire) paper survey was distributed to patients in the first Spina Bifida Transition Clinic at Boston Children's Hospital. TRAQ is a validated, patient-centered questionnaire which ...


The Bch-Sbpr: A Multi-Disciplinary Registry Collecting Longitudinal Data On Patients With Spina Bifida, Mohammad Alkawaldeh, Rebecca Sherlock, Estrada Carlos, Erika Alkhawaldeh 2017 University of Massachusetts Amherst

The Bch-Sbpr: A Multi-Disciplinary Registry Collecting Longitudinal Data On Patients With Spina Bifida, Mohammad Alkawaldeh, Rebecca Sherlock, Estrada Carlos, Erika Alkhawaldeh

UMass Center for Clinical and Translational Science Research Retreat

Introduction. In the U.S. alone, approximately 1500 infants are born with SB each year. An estimated 166,000 individuals with SB live in the United States.

Background. The BCH-SBPR was established in August 2015 to help increase knowledge about new procedures, surgeries and treatment options, growing up with Spina Bifida, and to guide healthcare practices by prospectively studying a cohort of children born with this condition.

Objective. The objective of this project is to collect comprehensive longitudinal clinical data (demographics, treatments, and outcomes) from a multi- disciplinary clinic on patients with SB.

Design: Prospective longitudinal design. Data collection will ...


C1qbp Inhibits Dux4-Dependent Gene Activation And Can Be Targeted With 4mu, Alec M. DeSimone, Genila Bibat, Kathryn Wagner, Guido Stadler, Woodring E. Wright, John D. Leszyk, Charles P. Emerson Jr. 2017 University of Massachusetts Medical School

C1qbp Inhibits Dux4-Dependent Gene Activation And Can Be Targeted With 4mu, Alec M. Desimone, Genila Bibat, Kathryn Wagner, Guido Stadler, Woodring E. Wright, John D. Leszyk, Charles P. Emerson Jr.

UMass Center for Clinical and Translational Science Research Retreat

FSHD is linked to the misexpression of the DUX4 gene contained within the D4Z4 repeat array on chromosome 4. The gene encodes the DUX4 protein, a cytotoxic transcription factor that presumably causes the symptoms of the disease. However, individuals have been identified who express DUX4 in their muscle biopsies, but who remain asymptomatic, suggesting that there are other factors that modify FSHD penetrance or severity. We hypothesized that an FSHD-modifying factor would physically interact with DUX4, and we took a proteomic approach to identify DUX4-interacting proteins. We identified the multifunctional C1QBP protein as one such factor. C1QBP is known to ...


Matrix Assisted Laser Desorption Ionization (Maldi) Mass Spectrometry: An Imaging Modality To Monitor The Effects Of Gene Therapy In A Murine Model Of Gm1 Gangliosidosis, Khaja Muneeruddin, Bindesh Shrestha, Hernando Olivos, Sophia H. Todeasa, Eleonora D'Ambrosio, Miguel Sena-Esteves, Scott A. Shaffer 2017 University of Massachusetts Medical School

Matrix Assisted Laser Desorption Ionization (Maldi) Mass Spectrometry: An Imaging Modality To Monitor The Effects Of Gene Therapy In A Murine Model Of Gm1 Gangliosidosis, Khaja Muneeruddin, Bindesh Shrestha, Hernando Olivos, Sophia H. Todeasa, Eleonora D'Ambrosio, Miguel Sena-Esteves, Scott A. Shaffer

UMass Center for Clinical and Translational Science Research Retreat

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by an enzyme deficiency of β-galactosidase (β-gal) leading to toxic accumulation of GM1 ganglioside in the central nervous system (CNS) and progressive neurodegeneration. Adeno-associated virus (AAV) mediated gene delivery of lysosomal enzymes to the CNS has shown great potential for the treatment of lysosomal storage diseases with neurological involvement. In this work we use MALDI mass spectrometry imaging (MSI) to assess the spatial distribution of gangliosides, ganglioside metabolites and related lipids in a GM1 gangliosidosis mouse brain model following adeno-associated virus (AAV) gene therapy.

Deficiency of β-galactosidase enzyme in a ...


Music: A Key For Unlocking Locked-In Syndrome And Improving The Quality Of Life For Those With Neurodegenerative Diseases, Heidi Hanekamp 2017 University of Wyoming

Music: A Key For Unlocking Locked-In Syndrome And Improving The Quality Of Life For Those With Neurodegenerative Diseases, Heidi Hanekamp

Honors Theses AY 16/17

Neurodegenerative diseases involve the gradual loss of neuronal functioning over time; such diseases include Alzheimer’s disease (AD), Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), and Huntington’s disease. The cause of these disorders is often idiopathic and treatment options are limited. Certain progressions of these diseases may lead to Locked-in-Syndrome, where an individual is aware of their environment but unable to communicate due to paralysis. The impact from these disorders often leads to further comorbidities and an overall lower quality of life. This paper addresses scientific literature on the effects of music on the brain and how music ...


Trunk And Respiratory Motor Control In Typically Developing Children And Its Implications In Children With Chronic Spinal Cord Injury., Goutam Singh 2017 University of Louisville

Trunk And Respiratory Motor Control In Typically Developing Children And Its Implications In Children With Chronic Spinal Cord Injury., Goutam Singh

Electronic Theses and Dissertations

Independent sitting is a major milestone and is also a prerequisite for optimal performance of activities of daily living (ADLs). Development of sitting posture control is a dynamic process involving control of degrees of freedom of head and trunk. Traditionally, trunk has been modeled as a single unit (segment). However, recent studies have suggested that it is made up multiple spinal units, controlled by a combination of trunk muscles. During typical development, posture control of trunk is different for different trunk segments. This motor development of trunk control is a complex process due to constant interaction between the nervous system ...


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