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Articles 4381 - 4410 of 24519
Full-Text Articles in Medicine and Health Sciences
Effect Of Sdf Application Versus Diode Laser Irradiation On Incipient Carious Lesion’S Progression In Primary Molars: A Randomize Clinical Trial, Islam Yehia, Noha Samir Kabil, Basma Gamal
Effect Of Sdf Application Versus Diode Laser Irradiation On Incipient Carious Lesion’S Progression In Primary Molars: A Randomize Clinical Trial, Islam Yehia, Noha Samir Kabil, Basma Gamal
Dentistry
The present study aimed to investigate the effect of two different preventive measures a) Silver diamine (SDF) application, b) Diode laser irradiation, on caries progression of incipient carious occlusal lesions in primary second molars. This clinical trial included two equal study groups of patients, for applying; Group I: SDF application, Group II: Diode laser irradiation, the included second primary molars for intervention were selected with incipient carious lesions graded by International Caries Detection & Assessment System (ICDAS)with scores (0,1,2). The involved molars were followed up for 3, 6, 12 months and ICDAS scores were graded to check for caries progression …
Effect Of Acid-Containing Drinks On Surface Roughness And Bacterial Accumulation Of Different Types Of Denture Base Materials, Sara Fikry Dr, Ayman Amin, Eman Khedr, Fatma Makkeya
Effect Of Acid-Containing Drinks On Surface Roughness And Bacterial Accumulation Of Different Types Of Denture Base Materials, Sara Fikry Dr, Ayman Amin, Eman Khedr, Fatma Makkeya
Dentistry
No abstract provided.
Spatiotemporal Modeling Of Maternal Mortality In South Carolina 2018-2023, Leah Wood, Ray Bai, Emily Mann
Spatiotemporal Modeling Of Maternal Mortality In South Carolina 2018-2023, Leah Wood, Ray Bai, Emily Mann
Senior Theses
Maternal death serves as a public health indicator due to fact that it is considered preventable with the availability of modern biomedicine, however, it persists broadly throughout the United States. Current literature outlines national trends in maternal mortality with complicating, preexisting conditions, and structural upstream factors often cited as being the largest contributors to increased risk. This study utilizes publicly available, county-level data for maternal death in addition to demographic and descriptive data in order to estimate maternal mortality rates in each of South Carolina’s 46 counties from 2018 to 2023. In order to address sparsity in the outcome variable …
10-21-25 Bor Hsc Committee Agenda, Patricia Serna
10-21-25 Bor Hsc Committee Agenda, Patricia Serna
HSC Committee (A subcommittee of the UNM Board of Regents)
10-21-25 BOR HSC Committee Agenda
Use Of Modified Z-Domain Peptides To Specifically Label The Constant Region Of Immunoglobulin G And Vegf, Madeline Allen
Use Of Modified Z-Domain Peptides To Specifically Label The Constant Region Of Immunoglobulin G And Vegf, Madeline Allen
Department of Chemistry: Dissertations, Theses, and Student Research
Antibodies are increasingly being used in medicinal therapies due to their ability to specifically bind to a target antigen. This fundamental behavior of antibodies has been used as a key component in drug development to address common problems with traditional drug molecules such as off-targeting, fast drug clearance, and low efficacy. This thesis provides some background into how antibodies can be used as potential treatments for a few diseases. Chapter 1 begins with an overview of the human immune system, and the role antibodies play within it. Then, the variety of ways in which antibodies can be used as medicinal …
“Il N’Y A Plus De Monstres”: A Case Study On Trans And Gender-Diverse Health In Switzerland, Sophie Lin
“Il N’Y A Plus De Monstres”: A Case Study On Trans And Gender-Diverse Health In Switzerland, Sophie Lin
Switzerland: Global Health and Development Policy
Transgender and gender-diverse (TGD) populations experience significant health disparities, particularly in regards to mental health outcomes and quality of life. This case study employs a qualitative approach to elucidate barriers and enablers to TGD health and gender-affirming care in Switzerland. Evidence collected from semi-structured interviews with health professionals working with Swiss TGD communities provides a thorough understanding of contemporary resources and obstacles regarding gender-affirming treatment. This research seeks to contribute to scholarship by synthesizing health literature with critical queer theory. Drawing from Butler’s theory of gender performativity, a framework of gender self-determination is advanced as a core principle of health, …
From Measures To Meaning: A Case Study On Co-Defining Aphasia Recovery Outcomes With Patient Experts, Ann Blair Kennedy, Amy Neira, Katie Parris, Sebrena Brink, Patients With Aphasia Panel, Nabil Natafgi, Dirk B. Den Ouden, Sara Sayers, Leonardo Bonilha, Julius Fridriksson
From Measures To Meaning: A Case Study On Co-Defining Aphasia Recovery Outcomes With Patient Experts, Ann Blair Kennedy, Amy Neira, Katie Parris, Sebrena Brink, Patients With Aphasia Panel, Nabil Natafgi, Dirk B. Den Ouden, Sara Sayers, Leonardo Bonilha, Julius Fridriksson
Communication Sciences and Disorders Faculty Articles and Research
Background
People with post-stroke aphasia are often excluded from shaping the research meant to support their recovery. Communication barriers, research norms, and traditional outcome frameworks contribute to a lack of meaningful involvement, particularly in the identification of patient-centered outcomes. While participatory models in aphasia research are emerging, few examples describe how individuals with communication disabilities can lead or co-create research priorities.
Main body
This case study describes a structured, collaborative effort to center the voices of people with aphasia in identifying meaningful outcomes for recovery. Through a partnership between the Patient Engagement Studio (PES) and the Center for the Study …
Integrating Mobility Dynamics Into Facility Location Modeling And Optimization, Daniel Hopkins
Integrating Mobility Dynamics Into Facility Location Modeling And Optimization, Daniel Hopkins
College of Engineering Summer Undergraduate Research Program
Facility location optimization is a foundational area in operations research and data analytics that is concerned with determining the optimal placement of facilities to serve a spatially distributed demand. However, traditional facility location decision is often approached from a centralized perspective, where the facility planner dictates the allocation of customers to facilities. In this setting, it is typically assumed that customers patronize the nearest facility, and their preferences are not explicitly modeled. This traditional decision-making framework may not accurately reflect real-world dynamics where customers may choose facilities based on a variety of factors beyond proximity. Thus, this project aims to …
Thou Shalt Not Castrate: The Conflict Between Louisiana’S Surgical Castration Law And The Principles Of Medical Ethics, Morgan Ambrosecchia
Thou Shalt Not Castrate: The Conflict Between Louisiana’S Surgical Castration Law And The Principles Of Medical Ethics, Morgan Ambrosecchia
Dickinson Law Review (2017-Present)
In 2024, Louisiana became the first state to permit courtordered surgical castration for sex offenders who have been convicted of certain sex crimes against children. Under the law, an offender who refuses to submit to the procedure will face an additional three to five years in prison without the possibility of parole, probation, or suspension of sentence. The court’s order is contingent on confirmation by a court-appointed expert that the offender is an “appropriate candidate for surgery.” However, the statutory language is vague and does not clearly define who can serve as an expert nor does it define the scope …
Sharksrx Newsletter Fall 2025, Nova Southeastern University
Sharksrx Newsletter Fall 2025, Nova Southeastern University
NSU Sharks Rx
No abstract provided.
Scalable Long-Read Nanopore Hpv16 Amplicon-Based Whole-Genome Sequencing, Maina Titus, David Giesbrecht, Cliff Oduor, Kapten Muthoka, Karamoko Niaré, Rebecca Crudale, Abebe Fola, Sin Hui, Isaac Kim Jr., Elkanah Orang'o
Scalable Long-Read Nanopore Hpv16 Amplicon-Based Whole-Genome Sequencing, Maina Titus, David Giesbrecht, Cliff Oduor, Kapten Muthoka, Karamoko Niaré, Rebecca Crudale, Abebe Fola, Sin Hui, Isaac Kim Jr., Elkanah Orang'o
Obstetrics and Gynaecology, East Africa
Human papillomavirus 16 (HPV16) drives precursor cervical lesions that often progress to cervical cancer (CC). Variation within the HPV16 genome has been associated with CC risk. Here, we developed an affordable and portable amplicon-based long-read whole genome sequencing (WGS) approach using Oxford Nanopore Technologies to investigate HPV16 genetic diversity among women in sub-Saharan African countries. Applied to a control CaSki cell line and clinical samples (n = 12), our method generated complete HPV16 genomes at high coverage (median read coverage: 5,899–15,279 ×). Benchmarking our HPV16 controls showed high accuracy for two variant calling pipelines (Clair3 and PEPPER-Margin DeepVariant). Phylogenetic analysis …
Emergency Medicine Pharmacist Prescriptive Authority For Resolution Of Outpatient Prescription Issues, Kevin Burnham, Christina Tran, Leandra Garcia, Julian Mccreary, Christo Philip, Osama A. Shoair
Emergency Medicine Pharmacist Prescriptive Authority For Resolution Of Outpatient Prescription Issues, Kevin Burnham, Christina Tran, Leandra Garcia, Julian Mccreary, Christo Philip, Osama A. Shoair
Pharmacy Faculty Publications and Presentations
Objectives: To describe the implementation and impact of a collaborative practice agreement (CPA) for emergency medicine pharmacists (EMPs) that grants them broad prescriptive authority to resolve outpatient discharge prescription issues independently. Methods: We conducted a retrospective chart review of all prescriptions written by EMPs under a CPA to resolve discharge prescription issues at a 70-bed emergency department (ED) within a large health system in South Dallas, Texas. This review covered the period from November 1, 2021, to June 30, 2023. EMPs were authorized to independently address prescription problems without a provider’s direct involvement. We collected data on patient demographics, the …
Fit For Success: Exploring Physical Activity Promotion And Effects On Students At The University Of South Carolina Through A Podcast Series, Maia Schwarzmueller
Fit For Success: Exploring Physical Activity Promotion And Effects On Students At The University Of South Carolina Through A Podcast Series, Maia Schwarzmueller
Senior Theses
College students face unique challenges when trying to maintain physical activity levels, such as time constraints, stress, and lack of proper facilities. The Fit for Success podcast will explore how physical activity is a powerful tool towards enhancing self-perception, academic success, and stress management as well as delve into the specific barriers that University of South Carolina students face to physical activity. The podcast will also explore different aspects of physical activity promotion including group fitness, competition, and built environment. The goal of the podcast is to help students to see physical activity as an important component of many facets …
Spinal Cord Injury, Children's Mercy Kansas City
Spinal Cord Injury, Children's Mercy Kansas City
Clinical Pathways
No abstract provided.
Determinants Of Uptake Of Breast Cancer Screening Among Women Of Reproductive Age In Makueni County, Lola Ndirangu
Determinants Of Uptake Of Breast Cancer Screening Among Women Of Reproductive Age In Makueni County, Lola Ndirangu
MSc in Advanced Practice Nursing
Background: Breast cancer is the most diagnosed cancer in all women worldwide, with women in low and middle-income countries dying of the disease in disproportionate numbers because of late diagnosis and access to screening services. Sub-Saharan Africa is an under-researched area, and the level of screening uptake in Kenya, especially in rural and semi-arid areas, including Makueni County, is low. This research assessed the factors that determine the reproductive age women's screening uptake of breast cancer in Makueni County.
Methodology: The cross-sectional design was analytical and was conducted in Makueni County Referral Hospital, where 301 randomly chosen women …
Positive Depression Screen Among Pregnant Women Attending Antenatal Clinic At Aga Khan University Hospital, Michael Maina Muriithi
Positive Depression Screen Among Pregnant Women Attending Antenatal Clinic At Aga Khan University Hospital, Michael Maina Muriithi
Master of Medicine in Obstetrics and Gynecology
Introduction: One in seven women experience peripartum depression, a common disorder that can occur during pregnancy or in the postpartum phase. Women are particularly vulnerable to depressive symptoms during pregnancy and the immediate postpartum period due to physiological changes during pregnancy as well as other sociocultural stressors. Peripartum depression is associated with significant maternal and perinatal adverse outcomes, including self-neglect, substance use, preterm birth, low birth weight and poor neurocognitive development, in offspring. There is a need to understand the prevalence and factors associated with depressive symptoms during pregnancy to improve maternal and neonatal outcomes. To our knowledge, this …
Oral And Maxillofacial Pathology Case Of The Month, John E. Kacher Dds
Oral And Maxillofacial Pathology Case Of The Month, John E. Kacher Dds
The Journal of the Michigan Dental Association
This case concerns a 39-year-old female patient presenting with an asymptomatic radiolucency and spiking root resorption in the right posterior mandible (tooth #30). The patient delayed treatment for three years due to the COVID-19 pandemic and fear of surgery. Upon return, the lesion had greatly expanded in size (approximately 22-by-17 mm), with increased root resorption. Surgery involved extraction of the tooth and thorough curettage of the lesion. Microscopic examination showed cellular tumor composed of plump spindle cells and interspersed psammoma body calcifications. The final diagnosis was aggressive ossifying fibroma, psammomatoid variant. Treatment typically involves complete local excision and curettage …
Global Transfusion Practices In Septic Patients In The Intensive Care Unit: Insights From The Input-Study Sub-Analysis, Vincent Kurucz, Andrew Flint, Alexis Poole, Merijn Reuland, Claudia Oord, Caroline Schaap, Jan Bakker, Maurizio Cecconi, Aarne Feldheiser, Marcus Lance
Global Transfusion Practices In Septic Patients In The Intensive Care Unit: Insights From The Input-Study Sub-Analysis, Vincent Kurucz, Andrew Flint, Alexis Poole, Merijn Reuland, Claudia Oord, Caroline Schaap, Jan Bakker, Maurizio Cecconi, Aarne Feldheiser, Marcus Lance
Anaesthesiology, East Africa
Background Transfusion practices among intensive care unit (ICU) patients with sepsis vary widely. While restrictive hemoglobin thresholds for red blood cell (RBC) transfusion are well studied, the indications and thresholds for platelet and plasma transfusions remain uncertain.
Methods We performed a sepsis-specific sub-analysis of the International Point Prevalence Study of Intensive Care Unit Transfusion Practices, a prospective, multicenter, observational study capturing all adult ICU admissions during four pre-scheduled weeks between March 2019 and October 2022. Patients admitted with sepsis or septic shock, or who developed sepsis during their ICU stay, were included. We recorded demographics, daily laboratory values, and transfusion …
Assessing The Accuracy And Readability Of Chatgpt 4.0'S Original And Simplified Responses To Common Patient Questions Regarding Periacetabular Osteotomy, John M. Gaddis, Elias Arellano, Blake Martin, Yossef Alsabawi, Martin Salgado-Flores, Charles South, Pablo Castaneda, Joel Wells
Assessing The Accuracy And Readability Of Chatgpt 4.0'S Original And Simplified Responses To Common Patient Questions Regarding Periacetabular Osteotomy, John M. Gaddis, Elias Arellano, Blake Martin, Yossef Alsabawi, Martin Salgado-Flores, Charles South, Pablo Castaneda, Joel Wells
School of Medicine Publications
Purpose: The study aimed to evaluate the accuracy, comprehensiveness, and readability of responses generated by ChatGPT 4.0 to 30 common patient questions about the Bernese periacetabular osteotomy (PAO).
Methods: Two fellowship-trained orthopaedic surgeons specializing in hip preservation selected thirty questions from a prior study identifying common PAO questions on social media. Each question was entered into ChatGPT 4.0, and the surgeons independently graded responses. Responses were evaluated using an established grading system. Accuracy and comprehensiveness were assessed based on the concordance of response content with current literature. Readability was analysed by calculating the Flesch-Kincaid Grade Level and Flesch-Kincaid Reading Ease. …
Law Library Blog (October 2025): Legal Beagle's Blog Archive, Roger Williams University School Of Law
Law Library Blog (October 2025): Legal Beagle's Blog Archive, Roger Williams University School Of Law
Law Library Newsletters/Blog
No abstract provided.
News You Need: How Many Of These Ada/Mda Practice Resources Are You Using?
News You Need: How Many Of These Ada/Mda Practice Resources Are You Using?
The Journal of the Michigan Dental Association
This October, MDA offers updates and resources including support for human resources, ongoing education, and professional tools. Michigan was selected for the Medicaid Oral Health Workforce Implementation Learning Series to enhance access to care. The MDA launched HERM-E, an AI-powered digital assistant providing 24/7 access to resources and quick answers. Supporting chairside advocacy for community water fluoridation, the News reports that a national survey indicates 81% of Americans support or are neutral about water fluoridation. Applications are now open for the 2026 MDA LEAD Program, and nominations are being accepted for MDA awards and leadership positions. The News column further …
J Mich Dent Assoc October 2025
J Mich Dent Assoc October 2025
The Journal of the Michigan Dental Association
Each month, the Journal of the Michigan Dental Association delivers news, information, and features about Michigan dentistry to our state's oral health community and the MDA's 6,200+ members. It remains the main publication reaching Michigan dentists and is available worldwide through ADACommons. The October 2025 (Volume 107, No. 10) issue of the Journal is published in a digital-only format to provide updates and insights for Michigan's oral health community and MDA members. Print editions will resume in November. The October issue highlights the critical importance of advocacy through the MDA Dental Political Action Committee (PAC) and provides practical, management-focused information …
The New Professional: The Unspoken Costs Of Saying ‘Yes’ To Everything, Amrita Patel Dds
The New Professional: The Unspoken Costs Of Saying ‘Yes’ To Everything, Amrita Patel Dds
The Journal of the Michigan Dental Association
Dr. Amrita Patel’s regular New Professional column guides new dentists who often feel pressured to say "yes" all the time to build goodwill and prove themselves. It warns that this mindset can lead to burnout, resentment, and loss of personal time. The outdated belief that professionalism requires constant sacrifice is considered harmful. Boundary-setting is shown as a vital skill, not a character flaw, for a sustainable career. The author offers scripts for politely turning down requests when at capacity. By emphasizing well-being and demonstrating healthy boundaries, new dentists gain respect and foster a more sustainable workplace for everyone, reinforcing that …
Mitochondrial Dysfunction And Lipid Dysregulation In Yeast Lacking Phosphatidylserine, Alaumy Joshi, Zakery N Baker, Rachel A Stanfield, Dimitris T Kalafatis, David J Pagliarini, Vishal M Gohil
Mitochondrial Dysfunction And Lipid Dysregulation In Yeast Lacking Phosphatidylserine, Alaumy Joshi, Zakery N Baker, Rachel A Stanfield, Dimitris T Kalafatis, David J Pagliarini, Vishal M Gohil
2020-Current year OA Pubs
Mitochondrial membrane phospholipids impact mitochondrial structure and function by influencing the assembly and activity of membrane proteins. Although the specific roles of the three most abundant mitochondrial phospholipids, phosphatidylcholine (PC), phosphatidylethanolamine (PE), and cardiolipin (CL), have been extensively studied, the precise function of less abundant phosphatidylserine (PS) is not yet determined. Here, we used genetic and nutritional manipulation to engineer a set of yeast mutants, including a mutant completely devoid of PS, to assess its role in mitochondrial bioenergetics and lipid homeostasis. To circumvent the confounding effect of downstream PS products, PE and PC, we exogenously supplied ethanolamine that allows …
Cell Autonomous Microglia Defects In A Stem Cell Model Of Frontotemporal Dementia Tau, Abhirami K Iyer, Farzaneh S Mirfakhar, Miguel Minaya, Mariana Acquarone, Rama Krishna Koppisetti, Arun Renganathan, Shih-Feng You, Emma P Danhash, Kylie J Schache, Anthony Verbeck, Grant Galasso, Scott M Lee, Guangming Huang, Katherine J Miller, Jacob Marsh, Chihiro Sato, Celeste M Karch, Et Al.
Cell Autonomous Microglia Defects In A Stem Cell Model Of Frontotemporal Dementia Tau, Abhirami K Iyer, Farzaneh S Mirfakhar, Miguel Minaya, Mariana Acquarone, Rama Krishna Koppisetti, Arun Renganathan, Shih-Feng You, Emma P Danhash, Kylie J Schache, Anthony Verbeck, Grant Galasso, Scott M Lee, Guangming Huang, Katherine J Miller, Jacob Marsh, Chihiro Sato, Celeste M Karch, Et Al.
2020-Current year OA Pubs
Neuronal dysfunction has been extensively studied as a central feature of neurodegenerative tauopathies. However, across neurodegenerative diseases, there is strong evidence for active involvement of immune cells like microglia in driving disease pathophysiology. Here, we demonstrate that MAPT mRNA and tau protein are expressed in microglia in human brains and in human induced pluripotent stem cell (iPSC)-derived microglia like cells (iMGLs). Using iMGLs harboring the MAPT IVS10 + 16 mutation and isogenic controls, we demonstrate that a tau mutation is sufficient to alter microglial transcriptional states. We discovered that MAPT IVS10 + 16 microglia exhibit cytoskeletal abnormalities, stalled phagocytosis, disrupted …
Succinate Dehydrogenase B (Sdhb) Overexpression With Enzymatic Dysfunction Defines A Distinct Subtype Of Undifferentiated Pleomorphic Sarcoma, Miguel Esperança-Martins, Brian A Van Tine, Alliny C S Bastos, Et Al.
Succinate Dehydrogenase B (Sdhb) Overexpression With Enzymatic Dysfunction Defines A Distinct Subtype Of Undifferentiated Pleomorphic Sarcoma, Miguel Esperança-Martins, Brian A Van Tine, Alliny C S Bastos, Et Al.
2020-Current year OA Pubs
UNLABELLED: Undifferentiated pleomorphic sarcoma (UPS) remains one of the most clinically aggressive and poorly characterized soft-tissue sarcoma subtypes. To uncover distinctive molecular traits for UPS, a multiomics analysis of UPS compared with leiomyosarcoma (LMS) and liposarcoma (LPS) was performed. Transcriptomic profiling revealed that UPS exhibits overexpression of genes encoding succinate dehydrogenase (SDH) subunits, particularly SDHB, SDHC, and SDHD, distinguishing it from LMS and dedifferentiated LPS. This finding was validated using The Cancer Genome Atlas Sarcoma dataset. High SDHB expression in UPS was significantly associated with shorter overall survival, shorter recurrence-free survival, and shorter overall survival from the date of first …
Gender Trends In Professional Advancement Among Academic Pediatric Neurologists, Juliet K Knowles, Renée A Shellhaas, Et Al.
Gender Trends In Professional Advancement Among Academic Pediatric Neurologists, Juliet K Knowles, Renée A Shellhaas, Et Al.
2020-Current year OA Pubs
No abstract provided.
Rev-Erbα Regulates Brain Nad+ Levels And Tauopathy Via An Nfil3-Cd38 Axis, Jiyeon Lee, Ryeonghwa Kang, Sohui Park, Ibrahim O Saliu, Minsoo Son, Jaymie R Voorhees, Julie M Dimitry, Elsa I Quillin, Brian V Lananna, Young-Ah Goo, Guoyan Zhao, Erik S Musiek, Et Al.
Rev-Erbα Regulates Brain Nad+ Levels And Tauopathy Via An Nfil3-Cd38 Axis, Jiyeon Lee, Ryeonghwa Kang, Sohui Park, Ibrahim O Saliu, Minsoo Son, Jaymie R Voorhees, Julie M Dimitry, Elsa I Quillin, Brian V Lananna, Young-Ah Goo, Guoyan Zhao, Erik S Musiek, Et Al.
2020-Current year OA Pubs
Nicotinamide adenine dinucleotide (NAD
Mapping The Geographic Distribution Of Dimorphic Mycoses Using A Us Commercial Insurance Database, Reid Goodman, Adriana M Rauseo, Samuel L Windham, Julio C Zuniga-Moya, William G Powderly, Andrej Spec, Patrick B Mazi
Mapping The Geographic Distribution Of Dimorphic Mycoses Using A Us Commercial Insurance Database, Reid Goodman, Adriana M Rauseo, Samuel L Windham, Julio C Zuniga-Moya, William G Powderly, Andrej Spec, Patrick B Mazi
2020-Current year OA Pubs
BACKGROUND: The dimorphic mycoses (DMs) histoplasmosis, blastomycosis, and coccidioidomycosis are classically thought to be geographically restricted to specific regions of the United States. The current scientific consensus is that these geographic boundaries are expanding, but the extent of this expansion remains uncertain.
METHODS: This study is a retrospective analysis of >21 million (annually) commercially insured individuals within the United States during 2007-2016. Diagnosis of histoplasmosis, coccidioidomycosis, and blastomycosis were identified using
RESULTS: There were 37 513 histoplasmosis, 14 987 coccidioidomycosis, and 2207 blastomycosis diagnoses during 2007-2016 within 387 Metropolitan Statistical Areas. DMs were consistently diagnosed outside their historical hyperendemic regions. …
Rtn4ip1 Is Required For The Final Stages Of Mitochondrial Complex I Assembly And Coq Biosynthesis, Monika Oláhová, Rachel M Guerra, Jack J Collier, Juliana Heidler, Kyle Thompson, Chelsea R White, Paulina Castañeda-Tamez, Alfredo Cabrera-Orefice, Robert N Lightowlers, Zofia M A Chrzanowska-Lightowlers, Alexander Galkin, Ilka Wittig, David J Pagliarini, Robert W Taylor
Rtn4ip1 Is Required For The Final Stages Of Mitochondrial Complex I Assembly And Coq Biosynthesis, Monika Oláhová, Rachel M Guerra, Jack J Collier, Juliana Heidler, Kyle Thompson, Chelsea R White, Paulina Castañeda-Tamez, Alfredo Cabrera-Orefice, Robert N Lightowlers, Zofia M A Chrzanowska-Lightowlers, Alexander Galkin, Ilka Wittig, David J Pagliarini, Robert W Taylor
2020-Current year OA Pubs
A biochemical deficiency of mitochondrial complex I (CI) underlies approximately 30% of cases of primary mitochondrial disease, yet the inventory of molecular machinery required for CI assembly remains incomplete. We previously characterised patients with isolated CI deficiency caused by segregating variants in RTN4IP1, a gene that encodes a mitochondrial NAD(P)H oxidoreductase. Here, we demonstrate that RTN4IP1 deficiency causes a CI assembly defect in both patient fibroblasts and knockout cells, and report that RTN4IP1 is a bona fide CI assembly factor. Complexome profiling revealed accumulation of unincorporated ND5-module and impaired N-module production. RTN4IP1 patient fibroblasts also exhibited defective coenzyme Q biosynthesis, …