Chronic Stress May Disrupt Covariant Fluctuations Of Vitamin D And Cortisol Plasma Levels And Placentome Formation In Pregnant Sheep During The Last Trimester: A Methodological Approach And Preliminary Report,
2022
Drexel University College of Medicine
Chronic Stress May Disrupt Covariant Fluctuations Of Vitamin D And Cortisol Plasma Levels And Placentome Formation In Pregnant Sheep During The Last Trimester: A Methodological Approach And Preliminary Report, Colin Wakefield
Tower Health Research Day
No abstract provided.
Sk3 In Pomc Neurons Plays A Sexually Dimorphic Role In Energy And Glucose Homeostasis,
2022
The Texas Medical Center Library
Sk3 In Pomc Neurons Plays A Sexually Dimorphic Role In Energy And Glucose Homeostasis, Meng Yu, Jonathan C Bean, Hailan Liu, Yang He, Yongjie Yang, Xing Cai, Kaifan Yu, Zhou Pei, Hesong Liu, Longlong Tu, Kristine M Conde, Mengjie Wang, Yongxiang Li, Na Yin, Nan Zhang, Junying Han, Nikolas A Scarcelli, Pingwen Xu, Yanlin He, Yong Xu, Chunmei Wang
Children’s Nutrition Research Center Staff Publications
Background: Pro-opiomelanocortin (POMC) neurons play a sexually dimorphic role in body weight and glucose balance. However, the mechanisms for the sex differences in POMC neuron functions are not fully understood.
Results: We detected small conductance calcium-activated potassium (SK) current in POMC neurons. Secondary analysis of published single-cell RNA-Seq data showed that POMC neurons abundantly express SK3, one SK channel subunit. To test whether SK3 in POMC neurons regulates POMC neuron functions on energy and glucose homeostasis, we used a Cre-loxP strategy to delete SK3 specifically from mature POMC neurons. POMC-specific deletion of SK3 did not affect body weight in either …
Biogenesis And Regulatory Roles Of Circular Rnas,
2022
The Texas Medical Center Library
Biogenesis And Regulatory Roles Of Circular Rnas, Li Yang, Jeremy E Wilusz, Ling-Ling Chen
Children’s Nutrition Research Center Staff Publications
Covalently closed, single-stranded circular RNAs can be produced from viral RNA genomes as well as from the processing of cellular housekeeping noncoding RNAs and precursor messenger RNAs. Recent transcriptomic studies have surprisingly uncovered that many protein-coding genes can be subjected to backsplicing, leading to widespread expression of a specific type of circular RNAs (circRNAs) in eukaryotic cells. Here, we discuss experimental strategies used to discover and characterize diverse circRNAs at both the genome and individual gene scales. We further highlight the current understanding of how circRNAs are generated and how the mature transcripts function. Some circRNAs act as noncoding RNAs …
Racial And Ethnic Differences In The Association Of Low-Carbohydrate Diet With Mortality In The Multi-Ethnic Study Of Atherosclerosis,
2022
The Texas Medical Center Library
Racial And Ethnic Differences In The Association Of Low-Carbohydrate Diet With Mortality In The Multi-Ethnic Study Of Atherosclerosis, Seung-Won Oh, Alexis C Wood, Seung-Sik Hwang, Matthew Allison
Children’s Nutrition Research Center Staff Publications
Importance: Evidence linking low-carbohydrate diets (LCDs) to mortality is limited among multiethnic populations.
Objective: To evaluate the association between LCDs and mortality by race and ethnicity.
Design, setting, and participants: The Multi-Ethnic Study of Atherosclerosis is a large, population-based prospective cohort study of adults aged 45 to 84 years recruited from 6 US communities. A total of 6109 participants without baseline cardiovascular disease were included in this analysis. Baseline data were collected from July 2000 to August 2002, with follow-up completed by December 2017. The data were analyzed between May 2021 and April 2022.
Exposures: Food frequency questionnaires were used …
Variability In Energy Expenditure Is Much Greater In Males Than Females,
2022
The Texas Medical Center Library
Variability In Energy Expenditure Is Much Greater In Males Than Females, Lewis G Halsey, Vincent Careau, Herman Pontzer, Philip N Ainslie, Lene F Andersen, Liam J Anderson, Lenore Arab, Issad Baddou, Kweku Bedu-Addo, Ellen E Blaak, Stephane Blanc, Alberto G Bonomi, Carlijn V C Bouten, Pascal Bovet, Maciej S Buchowski, Nancy F Butte, Stefan G J A Camps, Graeme L Close, Jamie A Cooper, Sai Krupa Das, Richard Cooper, Lara R Dugas, Ulf Ekelund, Sonja Entringer, Terrence Forrester, Barry W Fudge, Annelies H Goris, Michael Gurven, Catherine Hambly, Asmaa El Hamdouchi, Marije B Hoos, Sumei Hu, Noorjehan Joonas, Annemiek M Joosen, Peter Katzmarzyk, Kitty P Kempen, Misaka Kimura, William E Kraus, Robert F Kushner, Estelle V Lambert, William R Leonard, Nader Lessan, Corby K Martin, Anine C Medin, Erwin P Meijer, James C Morehen, James P Morton, Marian L Neuhouser, Theresa A Nicklas, Robert M Ojiambo, Kirsi H Pietiläinen, Yannis P Pitsiladis, Jacob Plange-Rhule, Guy Plasqui, Ross L Prentice, Roberto A Rabinovich, Susan B Racette, David A Raichlen, Eric Ravussin, Rebecca M Reynolds, Susan B Roberts, Albertine J Schuit, Anders M Sjödin, Eric Stice, Samuel S Urlacher, Giulio Valenti, Ludo M Van Etten, Edgar A Van Mil, George Wilson, Brian M Wood, Jack Yanovski, Tsukasa Yoshida, Xueying Zhang, Alexia J Murphy-Alford, Cornelia U Loechl, Amy H Luke, Jennifer Rood, Hiroyuki Sagayama, Dale A Schoeller, Klaas R Westerterp, William W Wong, Yosuke Yamada, John R Speakman
Children’s Nutrition Research Center Staff Publications
In mammals, trait variation is often reported to be greater among males than females. However, to date, mainly only morphological traits have been studied. Energy expenditure represents the metabolic costs of multiple physical, physiological, and behavioral traits. Energy expenditure could exhibit particularly high greater male variation through a cumulative effect if those traits mostly exhibit greater male variation, or a lack of greater male variation if many of them do not. Sex differences in energy expenditure variation have been little explored. We analyzed a large database on energy expenditure in adult humans (1494 males and 3108 females) to investigate whether …
Artificial Intelligence For Radiation Oncology Applications Using Public Datasets,
2022
The Texas Medical Center Library
Artificial Intelligence For Radiation Oncology Applications Using Public Datasets, Kareem A Wahid, Enrico Glerean, Jaakko Sahlsten, Joel Jaskari, Kimmo Kaski, Mohamed A Naser, Renjie He, Abdallah S R Mohamed, Clifton D Fuller
Faculty, Staff and Student Publications
Artificial intelligence (AI) has exceptional potential to positively impact the field of radiation oncology. However, large curated datasets - often involving imaging data and corresponding annotations - are required to develop radiation oncology AI models. Importantly, the recent establishment of Findable, Accessible, Interoperable, Reusable (FAIR) principles for scientific data management have enabled an increasing number of radiation oncology related datasets to be disseminated through data repositories, thereby acting as a rich source of data for AI model building. This manuscript reviews the current and future state of radiation oncology data dissemination, with a particular emphasis on published imaging datasets, AI …
Selective Iga Deficiency In Spontaneously Hypertensive Rats With Gut Dysbiosis,
2022
The Texas Medical Center Library
Selective Iga Deficiency In Spontaneously Hypertensive Rats With Gut Dysbiosis, Piu Saha, Blair Mell, Rachel M Golonka, Venugopal R Bovilla, Ahmed A Abokor, Xue Mei, Beng San Yeoh, Peter A Doris, Andrew T Gewirtz, Bina Joe, Matam Vijay-Kumar
Faculty, Staff and Student Publications
BACKGROUND: The spontaneously hypertensive rat (SHR) is extensively used to study hypertension. Gut microbiota dysbiosis is a notable feature in SHR for reasons unknown. Immunoglobulin A (IgA) is a major host factor required for gut microbiota homeostasis. We hypothesized that inadequate IgA contributes to gut microbiota dysbiosis in SHR.
METHODS: IgA was measured in feces, cecum, serum, liver, gut-associated lymphoid tissue, and milk from SHR and Wistar Kyoto rats. IgA regulatory factors like IgM, IgG, and
RESULTS: Compared with Wistar Kyoto rats, SHR displayed remarkably near-deficient IgA levels accompanied by compensatory increases in serum IgM and IgG and gut-liver
CONCLUSIONS: …
Sequencing Individual Genomes With Recurrent Genomic Disorder Deletions: An Approach To Characterize Genes For Autosomal Recessive Rare Disease Traits,
2022
The Texas Medical Center Library
Sequencing Individual Genomes With Recurrent Genomic Disorder Deletions: An Approach To Characterize Genes For Autosomal Recessive Rare Disease Traits, Bo Yuan, Katharina V Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R Lupski, Pengfei Liu
Children’s Nutrition Research Center Staff Publications
Background: In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics.
Methods: We constructed a genome-wide map for nonallelic homologous recombination (NAHR)-mediated recurrent genomic deletions and used this map to estimate population frequencies of NAHR deletions based on large-scale population cohorts and region-specific studies. We calculated recessive disease carrier burden using high-quality pathogenic or likely pathogenic variants from ClinVar and gnomAD. We developed a NIRD (NAHR deletion Impact to Recessive Disease) score for recessive …
Mixed Random And Nonrandom Allocation, And Group Randomization Have Been Mislabeled And Misanalysed, Necessitating Reanalysis Comment On Conner Et Al Kiwic For Vitality: Results Of A Randomized Placebo-Controlled Trial Testing The Effects Of Kiwifruit Or Vitamin C Tablets On Vitality In Adults With Low Vitamin C Levels,
2022
The Texas Medical Center Library
Mixed Random And Nonrandom Allocation, And Group Randomization Have Been Mislabeled And Misanalysed, Necessitating Reanalysis Comment On Conner Et Al Kiwic For Vitality: Results Of A Randomized Placebo-Controlled Trial Testing The Effects Of Kiwifruit Or Vitamin C Tablets On Vitality In Adults With Low Vitamin C Levels, Colby J Vorland, Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Andrew W Brown, David B Allison
Children’s Nutrition Research Center Staff Publications
We read the report by Conner and colleagues that tested whether kiwifruit or vitamin C affected measures of vitality [...].
Salivary Molecules As Indicators Of Hydration Status,
2022
Universidad de la República. Centro Universitario Regional del Este. Instituto Superior de Educación Física (UDELAR-CURE-ISEF) Uruguay/ Universidad de Carabobo. Facultad de Ciencias de la Salud. Centro de Biofísica y Neurociencias (UC-FCS-CBN) Venezuela
Salivary Molecules As Indicators Of Hydration Status, José Meléndez-Gallardo Dr., Mariana Figueroa, Gonzalo Butti, Mauro Iriart, María Lucía Stefanelli
Baltic Journal of Health and Physical Activity
Introduction: Maintaining an appropriate level of hydration is essential to health, especially when doing physical exercise. Thus, the importance of monitoring the before, during and after exercise status. Therefore, knowing and studying the changes and indicators that may provide reliable information on fluctuations in a simple, quick manner, via non-invasive sampling techniques becomes essential. Material and Methods: The data analyzed and processed (α-amylase, K+, Cl-, cortisol, total protein, and osmolality concentration in saliva) in this study are available on the free access research platform for complex physiological signals (https://physionet.org/content/qde/1.0.0/). Ten male subjects voluntarily took part in …
Effect Of Al2o3 On Nanostructure And Ion Transport Properties Of Pva/Peg/Ssa Polymer Electrolyte Membrane,
2022
The Texas Medical Center Library
Effect Of Al2o3 On Nanostructure And Ion Transport Properties Of Pva/Peg/Ssa Polymer Electrolyte Membrane, Hamdy F M Mohamed, Esam E Abdel-Hady, Mostafa M Y Abdel-Moneim, Mohamed A M Bakr, Mohamed A M Soliman, Mahmoud G H Shehata, Mahmoud A T Ismail
Faculty, Staff and Student Publications
Polymer electrolyte membrane (PEM) fuel cells have the potential to reduce our energy consumption, pollutant emissions, and dependence on fossil fuels. To achieve a wide range of commercial PEMs, many efforts have been made to create novel polymer-based materials that can transport protons under anhydrous conditions. In this study, cross-linked poly(vinyl) alcohol (PVA)/poly(ethylene) glycol (PEG) membranes with varying alumina (Al2O3) content were synthesized using the solvent solution method. Wide-angle X-ray diffraction (XRD), water uptake, ion exchange capacity (IEC), and proton conductivity were then used to characterize the membranes. XRD results showed that the concentration of Al2O3 affected the degree of …
Study Protocol For An Adapted Personal Project Analysis To Measure Vertical Inter-Goal Relations On Physical Activity And Diet,
2022
The Texas Medical Center Library
Study Protocol For An Adapted Personal Project Analysis To Measure Vertical Inter-Goal Relations On Physical Activity And Diet, Sara Kassas, Catherine Culot, Geert Crombez, Annique Smeding, Christophe Leys, Debbe Thompson, Ann Desmet
Children’s Nutrition Research Center Staff Publications
Background: The promotion of multiple healthy lifestyles has been implemented as part of public health efforts to prevent and reduce the burden of non-communicable diseases. However, these interventions have shown a heterogeneity in their effectiveness. The pursuit of multiple daily goals may influence overall progress in achieving health goals. Horizontal inter-goal relations can be conflicting (due to time constraints) or facilitating (due to goal compatibility) and impact progress towards goal achievement. Personal values also play an important role in health promotion. Personal values direct attention towards accomplishing a higher-level goal through goal setting. Identifying the conflicting or facilitating relationships between …
External Validation Of A Prediction Model For Estimating Fat Mass In Children And Adolescents In 19 Countries: Individual Participant Data Meta-Analysis,
2022
The Texas Medical Center Library
External Validation Of A Prediction Model For Estimating Fat Mass In Children And Adolescents In 19 Countries: Individual Participant Data Meta-Analysis, Mohammed T Hudda, Jonathan C K Wells, Linda S Adair, Jose R A Alvero-Cruz, Maxine N Ashby-Thompson, Martha N Ballesteros-Vásquez, Jesus Barrera-Exposito, Benjamin Caballero, Elvis A Carnero, Geoff J Cleghorn, Peter S W Davies, Malgorzata Desmond, Delan Devakumar, Dympna Gallagher, Elvia V Guerrero-Alcocer, Ferdinand Haschke, Mary Horlick, Houda Ben Jemaa, Ashraful I Khan, Amani Mankai, Makama A Monyeki, Hilde L Nashandi, Luis Ortiz-Hernandez, Guy Plasqui, Felipe F Reichert, Alma E Robles-Sardin, Elaine Rush, Roman J Shypailo, Jakub G Sobiecki, Gill A Ten Hoor, Jesús Valdés, V Pujitha Wickramasinghe, William W Wong, Richard D Riley, Christopher G Owen, Peter H Whincup, Claire M Nightingale
Children’s Nutrition Research Center Staff Publications
Objective: To evaluate the performance of a UK based prediction model for estimating fat-free mass (and indirectly fat mass) in children and adolescents in non-UK settings.
Design: Individual participant data meta-analysis.
Setting: 19 countries.
Participants: 5693 children and adolescents (49.7% boys) aged 4 to 15 years with complete data on the predictors included in the UK based model (weight, height, age, sex, and ethnicity) and on the independently assessed outcome measure (fat-free mass determined by deuterium dilution assessment).
Main outcome measures: The outcome of the UK based prediction model was natural log transformed fat-free mass (lnFFM). Predictive performance statistics of …
Mochi: A Comprehensive Cross-Platform Tool For Amplicon-Based Microbiota Analysis,
2022
The Texas Medical Center Library
Mochi: A Comprehensive Cross-Platform Tool For Amplicon-Based Microbiota Analysis, Jun-Jie Zheng, Po-Wen Wang, Tzu-Wen Huang, Yao-Jong Yang, Hua-Sheng Chiu, Pavel Sumazin, Ting-Wen Chen
Children’s Nutrition Research Center Staff Publications
Motivation: Microbiota analyses have important implications for health and science. These analyses make use of 16S/18S rRNA gene sequencing to identify taxa and predict species diversity. However, most available tools for analyzing microbiota data require adept programming skills and in-depth statistical knowledge for proper implementation. While long-read amplicon sequencing can lead to more accurate taxa predictions and is quickly becoming more common, practitioners have no easily accessible tools with which to perform their analyses.
Results: We present MOCHI, a GUI tool for microbiota amplicon sequencing analysis. MOCHI preprocesses sequences, assigns taxonomy, identifies different abundant species and predicts species diversity and …
Turning Nonselective Inhibitors Of Type I Protein Arginine Methyltransferases Into Potent And Selective Inhibitors Of Protein Arginine Methyltransferase 4 Through A Deconstruction-Reconstruction And Fragment-Growing Approach,
2022
The Texas Medical Center Library
Turning Nonselective Inhibitors Of Type I Protein Arginine Methyltransferases Into Potent And Selective Inhibitors Of Protein Arginine Methyltransferase 4 Through A Deconstruction-Reconstruction And Fragment-Growing Approach, Giulia Iannelli, Ciro Milite, Nils Marechal, Vincent Cura, Luc Bonnefond, Nathalie Troffer-Charlier, Alessandra Feoli, Donatella Rescigno, Yalong Wang, Alessandra Cipriano, Monica Viviano, Mark T Bedford, Jean Cavarelli, Sabrina Castellano, Gianluca Sbardella
Faculty, Staff and Student Publications
Protein arginine methyltransferases (PRMTs) are important therapeutic targets, playing a crucial role in the regulation of many cellular processes and being linked to many diseases. Yet, there is still much to be understood regarding their functions and the biological pathways in which they are involved, as well as on the structural requirements that could drive the development of selective modulators of PRMT activity. Here we report a deconstruction-reconstruction approach that, starting from a series of type I PRMT inhibitors previously identified by us, allowed for the identification of potent and selective inhibitors of PRMT4, which regardless of the low cell …
Redox-Engineering Enhances Maize Thermotolerance And Grain Yield In The Field,
2022
The Texas Medical Center Library
Redox-Engineering Enhances Maize Thermotolerance And Grain Yield In The Field, Stuart A Sprague, Tej Man Tamang, Trevor Steiner, Qingyu Wu, Ying Hu, Tayebeh Kakeshpour, Jungeun Park, Jian Yang, Zhao Peng, Blake Bergkamp, Impa Somayanda, Morgan Peterson, Ely Oliveira Garcia, Yangfan Hao, Paul St Amand, Guihua Bai, Paul A Nakata, Ivo Rieu, David P Jackson, Ninghui Cheng, Barbara Valent, Kendal D Hirschi, Sv Krishna Jagadish, Sanzhen Liu, Frank F White, Sunghun Park
Children’s Nutrition Research Center Staff Publications
Increasing populations and temperatures are expected to escalate food demands beyond production capacities, and the development of maize lines with better performance under heat stress is desirable. Here, we report that constitutive ectopic expression of a heterologous glutaredoxin S17 from Arabidopsis thaliana (AtGRXS17) can provide thermotolerance in maize through enhanced chaperone activity and modulation of heat stress-associated gene expression. The thermotolerant maize lines had increased protection against protein damage and yielded a sixfold increase in grain production in comparison to the non-transgenic counterparts under heat stress field conditions. The maize lines also displayed thermotolerance in the reproductive stages, resulting in …
Distinguishing Intrathyroid Parathyroid Adenoma From Colloid Nodules And Papillary Thyroid Carcinomas Using Multiphasic Multidetector Computed Tomography,
2022
The Texas Medical Center Library
Distinguishing Intrathyroid Parathyroid Adenoma From Colloid Nodules And Papillary Thyroid Carcinomas Using Multiphasic Multidetector Computed Tomography, J Matthew Debnam, T Linda Chi, Michael Kwon, Jia Sun, Dawid Schellingerhout, Brandon T Golant, Salmaan Ahmed, Nancy D Perrier, Thinh Vu
Faculty, Staff and Student Publications
OBJECTIVE: The aim of the study is to determine whether multiphase multidetector computed tomography (4D-MDCT) can differentiate between intrathyroid parathyroid adenomas (ITPAs), colloid nodules, and papillary thyroid carcinoma (PTC).
METHODS: We studied 22 ITPAs, 22 colloid nodules, and 11 PTCs in 55 patients. Hounsfield unit (HU) values of the nodules were measured on 4D-MDCT in the precontrast, arterial, venous, and delayed phases. Raw HU values, phase with peak enhancement, and washout percentages between the phases were evaluated.
RESULTS: Regardless of size, all ITPAs (22/22) showed peak enhancement in the arterial phase, which was significantly greater than both colloid nodules (15/22) …
The Associations Between Relative And Absolute Body Mass Index With Mortality Rate Based On Predictions From Stigma Theory,
2022
The Texas Medical Center Library
The Associations Between Relative And Absolute Body Mass Index With Mortality Rate Based On Predictions From Stigma Theory, Gregory Pavela, Nengjun Yi, Luis Mestre, Stella Lartey, Pengcheng Xun, David B Allison
Children’s Nutrition Research Center Staff Publications
Background: The social consequences of obesity may influence health and mortality rate (MR), given obesity's status as a highly stigmatized condition. Hence, a high absolute body mass index (BMI) in conjunction with the stigmatization of a high BMI may each independently increase the rate of MR.
Objectives: We tested whether relative BMI, defined as ordinal rank within a social reference group jointly defined by age, sex, and race/ethnicity, is associated with MR independent of absolute BMI.
Methods: Data were from three nationally representative datasets: the Health and Retirement Study (n = 31,115), the National Health Interview Survey (NHIS, n = …
Risk Of Type 2 Diabetes Among Individuals With Excess Weight: Weight Trajectory Effects,
2022
The Texas Medical Center Library
Risk Of Type 2 Diabetes Among Individuals With Excess Weight: Weight Trajectory Effects, Arthur H Owora, David B Allison, Xuan Zhang, Nana Gletsu-Miller, Kishore M Gadde
Children’s Nutrition Research Center Staff Publications
PURPOSE OF REVIEW: Increased risk of type 2 diabetes mellitus (T2D) among individuals with overweight or obesity is well-established; however, questions remain about the temporal dynamics of weight change (gain or loss) on the natural course of T2D in this at-risk population. Existing epidemiologic evidence is limited to studies that discretely sample and assess excess weight and T2D risk at different ages with limited follow-up, yet changes in weight may have time-varying and possibly non-linear effects on T2D risk. Predicting the impact of weight change on the risk of T2D is key to informing primary prevention. We critically review the …
Phenotypic And Genetic Spectrum Of Atp6v1a Encephalopathy: A Disorder Of Lysosomal Homeostasis,
2022
The Texas Medical Center Library
Phenotypic And Genetic Spectrum Of Atp6v1a Encephalopathy: A Disorder Of Lysosomal Homeostasis, Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly Mcdonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance Rodan, Rima Nabbout, Giulia Barcia, Jill A Rosenfeld, Carlos A Bacino, Cyril Mignot, Lillian H Power, Catharine J Harris, Dragan Marjanovic, Rikke S Møller, Trine B Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine De Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo La Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio
Faculty, Staff and Student Publications
Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in a variety of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in pH homeostasis and intracellular signalling pathways. In humans, 22 autosomal genes encode for a redundant set of subunits allowing the composition of diverse V-ATPase complexes with specific properties and expression. Sixteen subunits have been linked to human disease. Here we describe 26 patients harbouring 20 distinct pathogenic de novo missense ATP6V1A variants, mainly clustering within the ATP synthase α/β family-nucleotide-binding domain. At a mean age of 7 years (extremes: 6 weeks, youngest deceased …
