Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Diana Bharucha-Goebel"'
Autor:
Aravindhan Veerapandiyan, Anne M. Connolly, Katherine D. Mathews, Stanley Nelson, Craig McDonald, Richard S. Finkel, Vettaikorumakankav Vedanarayanan, Cuixia Tian, Susan Apkon, Julie A. Parsons, Jonathan H. Soslow, William Bryan Burnette, Kaitlin Y. Batley, Susan T. Iannaccone, Carolina Tesi Rocha, Kevin M. Flanigan, Diana Bharucha‐Goebel, Sarah Wright, Migvis Monduy, Simona Treidler, Ashutosh Kumar, Nancy L. Kuntz, Vamshi K. Rao, Rachel Schrader, Saunder M. Bernes, Vikki Ann Stefans, Jena M. Krueger, Marcia V. Felker, Omer Abdul Hamid, Arpita Lakhotia, Susan Matesanz, Partha S. Ghosh, Natalie Katz, Hoda Abdel‐Hamid, Chamindra G. Laverty, Bo Hoon Lee, Amy Harper, Leigh Ramos‐Platt, Diana Castro, Russell J. Butterfield, Crystal M. Proud, Craig M. Zaidman, Emma Ciafaloni
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 3, Pp 184-188 (2024)
Externí odkaz:
https://doaj.org/article/df1cf7b52fa3423cafb1b07b7a03d530
Autor:
Laura K. Case, Jaquette Liljencrantz, Nicholas Madian, Aaron Necaise, Justin Tubbs, Micaela McCall, Megan L. Bradson, Marcin Szczot, Mark H. Pitcher, Nima Ghitani, Eleni Frangos, Jonathan Cole, Diana Bharucha-Goebel, Dimah Saade, Tracy Ogata, Sandra Donkervoort, A. Reghan Foley, Carsten G. Bönnemann, Håkan Olausson, M. Catherine Bushnell, Alexander T. Chesler
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
The mechanisms underlying deep pressure sensing are not fully understood. Here the authors demonstrate that while two individuals lacking Aβ fibers demonstrate impaired deep pressure sensing, seven individuals with PIEZO2 loss of function mutations
Externí odkaz:
https://doaj.org/article/b005162b0b26483ea9700b4ecfd44b19
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Autor:
Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)
Abstract BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin‐5 for fusion of endoplasmic reticulum‐derived vesicles with the ER‐Golgi intermediate compartment (ERGIC) and the cis‐Golgi. Here, we report three
Externí odkaz:
https://doaj.org/article/36e02f0c64b8417881fabf19320857cf
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Autor:
Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee
Publikováno v:
The American Journal of Human Genetics.
Autor:
Rachel Battaglia, Maryam Faridounnia, Adriana Beltran, Jasmine Robinson, Karina Kinghorn, J. Ashley Ezzell, Diana Bharucha-Goebel, Carsten Bonnemann, Jody E. Hooper, Puneet Opal, Thomas W. Bouldin, Diane Armao, Natasha Snider
Publikováno v:
bioRxiv
Giant Axonal Neuropathy (GAN) is a pediatric neurodegenerative disease caused byKLHL16mutations.KLHL16encodes gigaxonin, a regulator of intermediate filament (IF) protein turnover. Previous neuropathological studies and our own examination of postmor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf52fd77b50093f7b7bafc61fc187d1
https://europepmc.org/articles/PMC10054982/
https://europepmc.org/articles/PMC10054982/
Autor:
Annette Rid, Eduardo Paredes, Christine Grady, Alexander A. Iyer, Carsten G. Bönnemann, Dimah Saade, Steven J. Gray, S Hendriks, G. Averion, Diana Bharucha-Goebel, A. Reghan Foley
Publikováno v:
Genetics in Medicine. 23:2057-2066
After decades of setbacks, gene therapy (GT) is experiencing major breakthroughs. Five GTs have received US regulatory approval since 2017, and over 900 others are currently in development. Many of these GTs target rare pediatric diseases that are se
Autor:
Margaret Fink, Carsten G. Bönnemann, Gina Norato, Diana Bharucha-Goebel, Sandra Donkervoort, A. Reghan Foley, G. Averion, Victoria Biancavilla, Sarah Debs, Dimah Saade, Eduardo Paredes, Ying Hu, Minal S. Jain, Rupleen Kaur, Wadih M. Zein, Diane Armao, M. Waite, Steven J. Gray, Tanya J. Lehky
Publikováno v:
Brain
Giant axonal neuropathy (GAN) is an ultra-rare autosomal recessive, progressive neurodegenerative disease with early childhood onset that presents as a prominent sensorimotor neuropathy and commonly progresses to affect both the peripheral nervous sy
Autor:
Muhammad, Yousef, Diana, Bharucha-Goebel, Dimah, Saade, Gilberto, Averion, Carsten G, Bönnemann, Zenaide M N, Quezado
Publikováno v:
AA practice. 15(10)
Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the GAN gene, which encodes for gigaxonin, a protein involved in intermediate filament processing in neural cells and fibroblasts. We report
Autor:
Mirthe H. Schoots, Sandra Donkervoort, Carsten G. Bönnemann, A. Reghan Foley, Johanna C. Herkert, Jan D. H. Jongbloed, Diana Bharucha-Goebel, Katherine R. Chao, Alissa M. D'Gama, James J. Collins, Pankaj B. Agrawal, Anita E. Qualls
Publikováno v:
Muscle Nerve
MUSCLE & NERVE, 59(3), 357-362. Wiley
MUSCLE & NERVE, 59(3), 357-362. Wiley
Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and increased central nuclei. SPEG (striated preferentially expressed protein kinase) mutations ha
Autor:
Alexander A, Iyer, Dimah, Saade, Diana, Bharucha-Goebel, A Reghan, Foley, Gilberto 'Mike', Averion, Eduardo, Paredes, Steven, Gray, Carsten G, Bönnemann, Christine, Grady, Saskia, Hendriks, Annette, Rid
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(11)
After decades of setbacks, gene therapy (GT) is experiencing major breakthroughs. Five GTs have received US regulatory approval since 2017, and over 900 others are currently in development. Many of these GTs target rare pediatric diseases that are se