Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Patricia M. Zerfas"'
Autor:
Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Emily Alderman, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, David R. Adams, Wendy J. Introne, Sharon M. Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, May Christine V. Malicdan
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-16 (2023)
Abstract Autophagy regulates the degradation of damaged organelles and protein aggregates, and is critical for neuronal development, homeostasis, and maintenance, yet few neurodevelopmental disorders have been associated with pathogenic variants in g
Externí odkaz:
https://doaj.org/article/26c827d9dfcc46b4ace723c7df39bf58
Autor:
Young Jae Bahn, Hariom Yadav, Paolo Piaggi, Brent S. Abel, Oksana Gavrilova, Danielle A. Springer, Ioannis Papazoglou, Patricia M. Zerfas, Monica C. Skarulis, Alexandra C. McPherron, Sushil G. Rane
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 13 (2023)
Understanding how skeletal muscle fiber proportions are regulated is vital to understanding muscle function. Oxidative and glycolytic skeletal muscle fibers differ in their contractile ability, mitochondrial activity, and metabolic properties. Fiber-
Externí odkaz:
https://doaj.org/article/e661227f09e44dff81ed08f7b6f00ce5
Autor:
Maxim Jestin, Senta M. Kapnick, Tatyana N. Tarasenko, Cassidy T. Burke, Patricia M. Zerfas, Francisca Diaz, Hilary Vernon, Larry N. Singh, Ronald J. Sokol, Peter J. McGuire
Publikováno v:
Molecular Metabolism, Vol 37, Iss , Pp 100981- (2020)
Objective: In individuals with mitochondrial disease, respiratory viral infection can result in metabolic decompensation with mitochondrial hepatopathy. Here, we used a mouse model of liver-specific Complex IV deficiency to study hepatic allostasis d
Externí odkaz:
https://doaj.org/article/57eee9318a0149fdab6d8bbe758fd63f
Autor:
Rachel Michelle Saré, Spencer K. Cooke, Leland Krych, Patricia M. Zerfas, Robert M. Cohen, Carolyn Beebe Smith
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Alzheimer’s disease (AD) is a progressive neurodegenerative disease resulting in cognitive decline. A unique rat model, TgF344-AD, recapitulates pathological hallmarks of AD. We used a longitudinal design to address the timing of expression of beha
Externí odkaz:
https://doaj.org/article/9d70688e83e94176bae91698f01495f3
Autor:
Marie Reine Haddad, Eun-Young Choi, Patricia M. Zerfas, Ling Yi, Diego Martinelli, Patricia Sullivan, David S. Goldstein, Jose A. Centeno, Lauren R. Brinster, Martina Ralle, Stephen G. Kaler
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 10, Iss , Pp 165-178 (2018)
Menkes disease is a lethal neurodegenerative disorder of copper metabolism caused by mutations in an evolutionarily conserved copper transporter, ATP7A. Based on our prior clinical and animal studies, we seek to develop a therapeutic approach suitabl
Externí odkaz:
https://doaj.org/article/a4cc1ab740b44d4f9ac2ad5537b6c26f
Autor:
Peter J. McGuire, Tatiana N. Tarasenko, Tony Wang, Ezra Levy, Patricia M. Zerfas, Thomas Moran, Hye Seung Lee, Brian J. Bequette, George A. Diaz
Publikováno v:
Disease Models & Mechanisms, Vol 7, Iss 2, Pp 205-213 (2014)
The urea cycle functions to incorporate ammonia, generated by normal metabolism, into urea. Urea cycle disorders (UCDs) are caused by loss of function in any of the enzymes responsible for ureagenesis, and are characterized by life-threatening episod
Externí odkaz:
https://doaj.org/article/0da26e115105420894d274a3f130b01f
Autor:
Alfonso S Gozalo, Patricia M Zerfas, Jing Qin, Derron A Alves, Munir Akkaya, Mirna Y Peña, William R Elkins
Publikováno v:
Comparative Medicine. 73:109-119
C57BL/6J (B6) mice are commonly affected by ulcerative dermatitis (UD), a disease of unknown etiology with poor response to treatment. To study the possible role of diet in UD, we compared skin changes in B6 female mice fed a high-fat diet with those
Autor:
Jurgen Schnermann, Lanping Jiang, Limeng Chen, Mario Schiffer, Robert Faulhaber-Walter, Jeffrey B. Kopp, Diane Mizel, Patricia M. Zerfas
Publikováno v:
International Journal of Nephrology and Renovascular Disease. 13:19-26
Aim of Study To investigate podocyte density in aging diabetic Ins2± and Ins2±, A1AR-/- mouse models in C57Bl/6 background. Methods Ins2± mice and especially Ins2±, adenosine A1 receptor knockout mice (Ins2±, A1AR-/-) are mouse models with a phe
Autor:
Elena-Raluca Nicoli, Mary R. Weston, Mary Hackbarth, Alissa Becerril, Austin Larson, Wadih M. Zein, Peter R. Baker, John Douglas Burke, Heidi Dorward, Mariska Davids, Yan Huang, David R. Adams, Patricia M. Zerfas, Dong Chen, Thomas C. Markello, Camilo Toro, Tim Wood, Gene Elliott, Mylinh Vu, Wei Zheng, Lisa J. Garrett, Cynthia J. Tifft, William A. Gahl, Debra L. Day-Salvatore, Joseph A. Mindell, May Christine V. Malicdan, Maria T. Acosta, Pankaj Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak-Toydemir, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David P. Bick, Camille L. Birch, Stephanie Bivona, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lorenzo Botto, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D'Souza, Surendra Dasari, Jyoti G. Dayal, Esteban C. Dell'Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Laura Duncan, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Laure Fresard, Rena A. Godfrey, Alica M. Goldman, David B. Goldstein, Jean-Philippe F. Gourdine, Alana Grajewski, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Nichole Hayes, Frances High, Ingrid A. Holm, Jason Hom, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, Lefkothea Karaviti, Emily G. Kelley, Dana Kiley, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Susan Korrick, Mary Koziura, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, Byron Lam, Brendan C. Lanpher, Ian R. Lanza, C. Christopher Lau, Jozef Lazar, Kimberly LeBlanc, Brendan H. Lee, Hane Lee, Roy Levitt, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Thomas May, Jacob McCauley, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Thomas O. Metz, Matthew Might, Eva Morava-Kozicz, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, Avi Nath, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Aaron Quinlan, Archana N. Raja, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Robb K. Rowley, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, Vandana Shashi, Kathleen Shields, Jimann Shin, Rebecca Signer, Catherine H. Sillari, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Kevin S. Smith, Lilianna Solnica-Krezel, Rebecca C. Spillmann, Joan M. Stoler, Nicholas Stong, Jennifer A. Sullivan, Shirley Sutton, David A. Sweetser, Holly K. Tabor, Cecelia P. Tamburro, Queenie K.-G. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Alyssa A. Tran, Tiina K. Urv, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Daniel Wegner, Monte Westerfield, Matthew T. Wheeler, Anastasia L. Wise, Lynne A. Wolfe, Jeremy D. Woods, Elizabeth A. Worthey, Shinya Yamamoto, John Yang, Amanda J. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Stephan Zuchner
Publikováno v:
The American Journal of Human Genetics. 104:1127-1138
Optimal lysosome function requires maintenance of an acidic pH maintained by proton pumps in combination with a counterion transporter such as the Cl(−)/H(+) exchanger, CLCN7 (ClC-7), encoded by CLCN7. The role of ClC-7 in maintaining lysosomal pH
Autor:
Katta M. Girisha, Cecilia Rivas, Laila Mahmoud, Hessa S. Alsaif, Abdel G. Elkahloun, Michaela Prochazkova, Georgia Ramantani, Steven P. Bodine, Dilek Colak, Matthew R. Herzog, John Douglas Burke, Joshi Stephen, Sheela Nampoothiri, Anju Shukla, William A. Gahl, Ascia Eskin, H. Douglas Morris, Tadafumi Yokoyama, Lisa Garrett, Salma M. Wakil, PV Suresh, Nathanial J. Tolman, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Katharina Steindl, Siddaramappa J. Patil, Ashok B. Kulkarni, Rehab Ali, Julian A. Martinez-Agosto, May Christine V. Malicdan, Anita Rauch, Hane Lee, Pascal Joset, Patricia M. Zerfas, Stanley F. Nelson, Allison Zheng, Nicholas Balanda, Sateesh Maddirevula
Publikováno v:
The American Journal of Human Genetics. 103:948-967
Neurodevelopmental disorders (NDD) are genetically and phenotypically heterogeneous conditions due to defects in genes involved in development and function of the nervous system. Individuals with NDD, in addition to their primary neurodevelopmental p