Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Angela L. McCall"'
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:
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
Autor:
Angela L. McCall, Mai K. ElMallah
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 3, p 751 (2019)
The authors of the recently published, “Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases„, provide an important review of the various mechanisms of lysosomal storage diseases (LSD) and how they culminate in similar cli
Externí odkaz:
https://doaj.org/article/dd3d3afc8fa64800a2a6a737493e3889
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:
Angela L McCall, Sang-oh Han, Benjamin Arnson, Mai K. ElMallah, Dwight D. Koeberl, Haoyue Zhang, Songtao Li, Jeffrey I. Everitt, Sarah P. Young
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 133-142 (2020)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA). It is expected that gene therapy to replace GAA with adeno-associated virus (AAV) vectors will be less effective early in life because of the rapid loss of vector genom
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
Autor:
Denise A. Cloutier, Darin J. Falk, Gabrielle Cowen, Nathalie Clement, Angela L McCall, Lin Yang, Zizhao Zhang, Sylvia G. Stankov, Barry J. Byrne
Publikováno v:
Current Gene Therapy. 19:197-207
Background::Pompe disease is a fatal neuromuscular disorder caused by a deficiency in acid α-glucosidase, an enzyme responsible for glycogen degradation in the lysosome. Currently, the only approved treatment for Pompe disease is enzyme replacement
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/
Publikováno v:
Molecular Therapy. 29:1661-1662