Results 21 to 30 of about 6,638 (157)

Bridging Biochemical and Clinical Disease Burden in Fabry Disease: A Comparative Analysis of Lyso-Gb3, MSSI, DS3, and FASTEX. [PDF]

Int J Mol Sci
Fabry disease is a rare X-linked lysosomal storage disorder characterized by progressive glycosphingolipid accumulation and multisystem organ involvement. Globotriaosylsphingosine (Lyso-Gb3) has emerged as a promising biomarker of disease burden; however,
Ozturk S, Akyol EMB.
europepmc   +2 more sources

A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice [PDF]

Kidney Research and Clinical Practice, 2023
Background Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for ...
Soo Jeong Choi, Su Hyun Kim, Min Sung Lee, Samel Park, Eunjung Cho, Seung Seok Han, Eun Sil Koh, Byung Ha Chung, Kyung Hwan Jeong, Eun Hui Bae, Eun Young Lee, Young Joo Kwon   +11 more
doaj   +1 more source

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?

Molecular Genetics and Metabolism Reports, 2021
Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians ...
Takahiro Tsukimura, Tomoko Shiga, Koki Saito, Yasuhiro Ogawa, Hitoshi Sakuraba, Tadayasu Togawa   +5 more
doaj   +1 more source

Signal Peptide Engineering and Codon Optimization to Enhance α-Gal A Activity for rAAV Gene Therapy of Fabry Disease. [PDF]

J Inherit Metab Dis
ABSTRACT Fabry disease is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A (α‐Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso‐Gb3) in various organs.
He S, Yang L, Wan K, Zheng Z, Leng M, Gan C, Liu Y, Xiao L, Ye J, Chen Z, Zhou J, Valencia CA, Abuammah A, Chow HY, Dong B, Chen Y.   +15 more
europepmc   +2 more sources

Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model

Journal of Lipid Research, 2020
Fabry disease is caused by deficient activity of α-galactosidase A, an enzyme that hydrolyzes the terminal α-galactosyl moieties from glycolipids and glycoproteins, and subsequent accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3 ...
Siamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S. Day, Mouna Taroua, Raphael Schiffmann, Christiane Auray-Blais, Jin-Song Shen   +6 more
doaj   +1 more source

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A) [PDF]

Orphanet Journal of Rare Diseases, 2014
In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac Fabry mutation (IVS4 + 919G > A). However, the natural course, long-term treatment outcomes and suitable biomarkers for monitoring the therapeutic outcomes of these patients are largely unknown.Fabry disease (FD) patients who ...
Liu, Hao-Chuan, Lin, Hsiang-Yu, Yang, Chia-Feng, Liao, Hsuan-Chieh, Hsu, Ting-Rong, Lo, Chiao-Wei, Chang, Fu-Pang, Huang, Chun-Kai, Lu, Yung-Hsiu, Lin, Shuan-Pei, Yu, Wen-Chung, Niu, Dau-Ming   +11 more
openaire   +2 more sources

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease [PDF]

, 2022
BACKGROUND Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A gene (GLA) leading to deficiency of α-galactosidase A and ultimately in progressive glycosphingolipid accumulation, especially ...
Warnock, David G, Nowak, Albina; https://orcid.org/, Sivasubramaniam, Visnuka, Beuschlein, Felix; https://orcid.org/, Kasper, David   +4 more
core   +1 more source

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

Molecular Therapy: Methods & Clinical Development, 2020
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene, which encodes the exogalactosyl hydrolase, alpha-galactosidase A (α-Gal A).
Makiko Yasuda, Marshall W. Huston, Silvere Pagant, Lin Gan, Susan St. Martin, Scott Sproul, Daniel Richards, Stephen Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler   +16 more
doaj   +1 more source

Systematic gene therapy derived from an investigative study of AAV2/8 vector gene therapy for Fabry disease

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease (FD) is a progressive multisystemic disease characterized by a lysosomal enzyme deficiency. A lack of α-galactosidase A (α-Gal A) activity results in the progressive systemic accumulation of its substrates, including ...
Mulan Deng, Hongyu Zhou, Shaomei He, Haoheng Qiu, Yanping Wang, April Yuanyi Zhao, Yunping Mu, Fanghong Li, Allan Zijian Zhao   +8 more
doaj   +1 more source

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain [PDF]

, 2015
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy.
Minett, M.S., Mitlett, MS, Kopach, O., Minett, MS, Mills, K., Wood, J.N., Choi, L., Vernon, J., Choi, Minee, Vernon, J, Kopach, O, Meert, T, Clayton, P.T., Clayton, PT, Mills, K, Wood, JN, Meert, T., Choi, L   +17 more
core   +1 more source