Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Justin S Dhindsa"'
Autor:
Anna F. Fusco, Logan A. Pucci, Pawel M. Switonski, Debolina D. Biswas, Angela L. McCall, Amanda F. Kahn, Justin S. Dhindsa, Laura M. Strickland, Albert R. La Spada, Mai K. ElMallah
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 7 (2021)
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large repeat expansions (>200 CAGs) a
Externí odkaz:
https://doaj.org/article/8c75ff01c0a146fcb49a77e3ba463d3f
Autor:
Ryan S. Dhindsa, Blake Weido, Justin S. Dhindsa, Arya J. Shetty, Chloe Sands, Slavé Petrovski, Dimitrios Vitsios, Anthony W. Zoghbi
Despite great progress in the identification of neurodevelopmental disorder (NDD) risk genes, there are thousands that remain to be discovered. Computational tools that provide accurate gene-level predictions of NDD risk can significantly reduce the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b598b09a50696375e27f7f0c446290d0
https://doi.org/10.1101/2022.11.21.517436
https://doi.org/10.1101/2022.11.21.517436
Autor:
Anna F. Fusco, Angela L. McCall, Justin S. Dhindsa, Lucy Zheng, Aidan Bailey, Amanda F. Kahn, Mai K. ElMallah
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 6, p 2256 (2020)
Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in GAA results in muscle and neuronal glycogen accumulation, which cause
Externí odkaz:
https://doaj.org/article/1f9068fe090547b586d8fab2a57569cf
Accumulation of pathological Ataxin‐7 in the medulla leads to hypoglossal (XII) motor unit pathology
Autor:
Debolina D. Biswas, Laura M. Strickland, Justin S. Dhindsa, Yihan Shi, Ronit Sethi, Sean Kehoe, Elias X. Lai, Meredith L. Huston, Evelyn R. Scarrow, Mai K. ElMallah
Publikováno v:
The FASEB Journal. 36
Autor:
Angela L McCall, Logan A Pucci, Laura M Strickland, Mai K. ElMallah, Justin S Dhindsa, Aidan M. Bailey
Publikováno v:
Journal of Smooth Muscle Research
Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid α-glucosidase (GAA)—an enzyme necessary for lysosomal glycogen degradation. A lack of GAA results in an accumulation of glycogen in cardiac an
Autor:
Pawel M. Switonski, Justin S Dhindsa, Mai K. ElMallah, Anna F Fusco, Debolina D. Biswas, Logan A Pucci, Laura M Strickland, Albert R. La Spada, Angela L McCall, Amanda F Kahn
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 7 (2021)
Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms
article-version (VoR) Version of Record
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large repeat expansions (>200 CAGs) a
Autor:
Aidan M. Bailey, Charles A. Gersbach, Angela L McCall, Justin S Dhindsa, Jacqueline N. Robinson-Hamm, Logan A Pucci, Mai K. ElMallah
Publikováno v:
The FASEB Journal. 35
Publikováno v:
The FASEB Journal. 35
Autor:
Angela L McCall, Dwight D. Koeberl, Aravind Asokan, Justin S Dhindsa, Mohamad A. Mikati, Mai K. ElMallah, Arsen S. Hunanyan, Keri Wallace, Jordan Poe, Promila Pagadala, Talha Gunduz, Ram S. Puranam, Courtney Elliott, Boris Kantor
Publikováno v:
Hum Gene Ther
Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the effe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f07a5aa1c6da0148fed610b4cdb5bc
https://europepmc.org/articles/PMC8182483/
https://europepmc.org/articles/PMC8182483/
Autor:
Nicole L. Nichols, Mai K. ElMallah, Angela L McCall, Christian Mueller, Justin S Dhindsa, Lori A Lind, Olivia E. Stricklin, Katherine A. Johnson, Ellyn M Andel, Teresa E. Lever
Publikováno v:
Hum Gene Ther
Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by degeneration of motor neurons and muscles, and death is usually a result of impaired respiratory function due to loss of motor neurons that control upper airway muscles and/or th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44b5027d0b544b5dfa747b0daef0ebf5
https://europepmc.org/articles/PMC7462029/
https://europepmc.org/articles/PMC7462029/