Zobrazeno 1 - 10
of 337
pro vyhledávání: '"Acid α-glucosidase"'
Autor:
Jorge Alfredo Bevilacqua, Abdullah Mohammed Al-Salti, Abubaker Al Madani, Armando Alves da Fonseca, Hacer Durmus, Josiah Chai, Ali Alshehri, Márcia Gonçalves Ribeiro, Paulo Sgobbi, Sergey S. Nikitin, Steven Vargas, Adriana Furtado, Nathan Thibault, Roberto Araujo, Nadia Daba
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionHereditary myopathies arise due to numerous pathogenic variants occurring in distinct genes, which amount to several hundred. Limb–girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders involving
Externí odkaz:
https://doaj.org/article/08e96ced39df4405ab6e4d78c5828925
Autor:
Jeanine R. Jarnes, Nishitha R. Pillai, Alia Ahmed, Sofia Shrestha, Molly Stark, Chester B. Whitley
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 42, Iss , Pp 101179- (2025)
Background: The current standard of care for infantile-onset Pompe disease (IOPD), a severe form of acid α-glucosidase enzyme activity deficiency is: (1) detection by newborn screening, (2) early initiation of intravenous enzyme replacement therapy
Externí odkaz:
https://doaj.org/article/73860ade893f48ebb8f59982ff07a223
Autor:
Chloe L. Christensen, Shih-Hsin Kan, Perla Andrade-Heckman, Allisandra K. Rha, Jerry F. Harb, Raymond Y. Wang
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102220- (2024)
Infantile-onset Pompe disease (IOPD) results from pathogenic variants in the GAA gene, which encodes acid α-glucosidase. The correction of pathogenic variants through genome editing may be a valuable one-time therapy for PD and improve upon the curr
Externí odkaz:
https://doaj.org/article/1802f059de1b4f2283683a1cc2af36e3
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101085- (2024)
Pompe disease is a rare genetic disorder characterized by a deficiency of acid α-glucosidase (GAA), leading to the accumulation of glycogen in various tissues, especially in skeletal muscles. The disease manifests as a large spectrum of phenotypes f
Externí odkaz:
https://doaj.org/article/d049ceebc3d444e0bd27a8884b2b47a0
Autor:
Allen K. Murray
Publikováno v:
International Journal of Translational Medicine, Vol 1, Iss 3, Pp 381-402 (2021)
Glycogen is present in all tissues, but it is primarily stored in the liver and in muscle. As a branched chain carbohydrate, it is broken down by phosphorylase and debrancher enzymes, which are cytoplasmic. It is also degraded by a lysosomal α-gluco
Externí odkaz:
https://doaj.org/article/06aad531526e42d4a685a6867bdebbeb
Autor:
Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose, Kimitoshi Nakamura
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle. We co
Externí odkaz:
https://doaj.org/article/5bcc5203a9df4ca3a5d7188233c212fb
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)
Abstract Background Pompe disease (PD) is a serious genetic disorder caused by deficiency of acid α-glucosidase (GAA) and subsequent glycogen accumulation inside lysosomes. This study included a cohort of 5 Egyptian infants (1–8 months old) with f
Externí odkaz:
https://doaj.org/article/80b1f9edba774b38a0beb7b458a44e09
Autor:
Vincenza Gragnaniello, Pim W.W.M. Pijnappel, Alessandro P. Burlina, Stijn L.M. In 't Groen, Daniela Gueraldi, Chiara Cazzorla, Evelina Maines, Giulia Polo, Leonardo Salviati, Giovanni Di Salvo, Alberto B. Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100929- (2022)
Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and bet
Externí odkaz:
https://doaj.org/article/7db341a8b0d04471852e409a9183746c
Autor:
Xiufang He, Xuandi Li, Yuese Lin, Hongjun Ba, Huimin Peng, Lili Zhang, Ling Zhu, Youzhen Qin, Shujuan Li
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundPompe disease is usually considered in children with elevated creatine kinase (CK) levels and decreased acidic α-glucosidase (GAA) enzyme activity. However, there are exceptions, such as GAA pseudo deficiency alleles, which result in lower
Externí odkaz:
https://doaj.org/article/d593c728a3e345c38b62935490cc8885
Autor:
Merel Stok, Helen de Boer, Marshall W. Huston, Edwin H. Jacobs, Onno Roovers, Trudi P. Visser, Holger Jahr, Dirk J. Duncker, Elza D. van Deel, Arnold J.J. Reuser, Niek P. van Til, Gerard Wagemaker
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1014-1025 (2020)
Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive muscle weakness. The disease is caused by mutations in the acid α-glucosidase (GAA) gene. Despite the currently available enzyme replacement therapy (ERT
Externí odkaz:
https://doaj.org/article/81835f573420466a90338ee21c4f9707