Results 51 to 60 of about 1,106 (130)

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

Molecular Genetics and Metabolism Reports, 2023
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by insufficient activity of α-galactosidase A (α-Gal A) encoded by GLA. The enzymatic defect causes the progressive accumulation of sphingolipids in various tissues and body fluids ...
Masanori Hirose, Sho Okada, Yoshio Kobayashi   +2 more
doaj   +1 more source

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon‐Optimized hGLA cDNA Results in Long‐Term Disease Correction

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Himanshi Saxena, Rossana Domenis, Giulia Romano, Jessica Biasizzo, Martina Ferro, Dania Ferino, Antonio Vicidomini, Alessandra Iaconcig, Giulia Bortolussi, Lorena Zentilin, Andrea Dardis, Andrés F. Muro   +11 more
wiley   +1 more source

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study [PDF]

, 2017
Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates.
Hamazaki, T, Yu, J, Kirk, John, Wilcox, William R., Lachmann, Robin, Vockley, Gerard, Olivotto, I., Jovanovic, Ana, Dimmock, D, Boudes, Pol, Castelli, Jeffrey P., Skuban, Nina, Dimmock, David, Germain, DP, Bichet, Daniel G., Castelli, Jeffrey P, Bichet, Daniel G, Koeller, David, Hughes, Derralynn A, Sunder-Plassmann, G, Yu, Julie, Kirk, J, Feldt-Rasmussen, U, Shankar, Suma P, Barth, J, Ludington, E, Barth, Jay, Lockhart, David J, Johnson, F, Lockhart, David J., Lourenco, Charles M., Koeller, D, Barlow, C, Sakai, Norio, Nicholls, K, Ohashi, Toya, Castelli, JP, Feldt-Rasmussen, Ulla, Wilcox, William R, Hachulla, E, Hughes, DA, Jovanovic, A, Olivotto, Iacopo, Narita, Ichiei, Benjamin, Elfrida R., Benjamin, ER, Ohashi, T, Hamazaki, Takashi, Wilcox, WR, Deegan, P, Barlow, Carrolee, Shankar, SP, Vockley, G, Olivotto, I, Germain, Dominique P., Viereck, Christopher, Nedd, K, Sakai, N, Narita, I, Sunder-Plassmann, Gere, Boudes, P, Eyskens, François, Ludington, Elizabeth, Deegan, Patrick, Lockhart, DJ, Bichet, DG, Hachulla, Eric, Germain, Dominique P, Skuban, N, Lourenco, CM, Johnson, Franklin, Lachmann, R, Hughes, Derralynn A., Benjamin, Elfrida R, Lourenco, Charles M, Thomas, Mark, Nicholls, Kathleen, Nedd, Khan, Eyskens, F, Schiffmann, Raphael, Shankar, Suma P., Goker-Alpan, Ozlem, Goker-Alpan, O, Schiffmann, R, Viereck, C, Thomas, M   +85 more
core   +1 more source

Signal Peptide Engineering and Codon Optimization to Enhance α‐Gal A Activity for rAAV Gene Therapy of Fabry Disease

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
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.
Siwu He, Li Yang, Ke Wan, Zhaoyue Zheng, Mi Leng, Chunmei Gan, Yu Liu, Lin Xiao, Jingya Ye, Zhian Chen, Jiao Zhou, C. Alexander Valencia, Aliah Abuammah, Hoi Yee Chow, Biao Dong, Yucheng Chen   +15 more
wiley   +1 more source

Pharmacotherapy Risks in Rare Genetic Diseases: Cross‐Referencing ACMG Secondary Findings v3.2 List With Clinical Databases

Clinical and Translational Science, Volume 19, Issue 1, January 2026.
ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen, Benjamin Q. Duong, Jordan Vogt, Pamela Arn   +3 more
wiley   +1 more source

Fabry disease biomarkers in patients switched from enzyme-replacement therapy to migalastat oral chaperone therapy

, 2023
Background: A biomarker profile was evaluated longitudinally in patients with Fabry disease switched from enzyme-replacement therapy (ERT) to migalastat.
Lavoie, Pamela; https://orcid.org/, Bichet, Daniel G; https://orcid.org/, Martineau, Tristan; https://orcid.org/, Goker-Alpan, Ozlem; https://orcid.org/, Altarescu, Gheona; https://orcid.org/, Ntumba, Georges Kabala; https://orcid.org/, Nowak, Albina; https://orcid.org/, West, Michael L; https://orcid.org/, Lehman, Anna; https://orcid.org/, Gamrani, Mohamed; https://orcid.org/, Auray-Blais, Christiane; https://orcid.org/, Khan, Aneal; https://orcid.org/   +11 more
core   +1 more source

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

Effects Of Long-Term Migalastat Treatment In Fabry Disease Patients Previously Treated With Enzyme Replacement Therapy Who Have Migalastatamenable Variants With Low Α-Galactosidase A Response In The In Vitro Migalastat Amenability Assay

, 2019
Introduction: Fabry disease is a rare, X-linked lysosomal disorder caused by pathogenic variants in the GLA gene, resulting in functional deficiency of α-galactosidase A (α-Gal A), leading to substrate accumulation and multi-organ deterioration ...
Skuban, N, Nicholls, K, Ohashi, T, Williams, H, Jain, V, Olivotto, I   +5 more
core   +1 more source

In Vitro Screening of an FDA‐Approved Chemical Library for Arylsulfatase A Using Fibroblast Cells Derived From Patients With MLD

BioMed Research International, Volume 2026, Issue 1, 2026.
Background Metachromatic leukodystrophy (MLD) is a rare metabolic disease characterized by demyelination and inherited in an autosomal recessive manner. It is caused by mutations in the arylsulfatase A (ARSA) gene. When ARSA enzyme activity is lacking or reduced, sulfatides and lysosulfatides accumulate, particularly within the myelin sheath, resulting
Takashi Miyajima, Miki Igarashi, Chen Wu, Takeo Iwamoto, Yoshikatsu Eto   +4 more
wiley   +1 more source

Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report

Frontiers in Medicine
Fabry disease (FD) is an X-linked disorder resulting in a deficiency of α-galactosidase A (GLA) activity. The R112H mutation of GLA is relatively common in Japanese FD patients, characterized by a late-onset phenotype, almost normal to mild lyso-Gb3 ...
Keiko Tanaka, Hitoshi Sugiyama, Hitoshi Sugiyama, Hiroshi Morinaga, Akifumi Onishi, Katsuyuki Tanabe, Haruhito A. Uchida, Hiroki Maruyama, Hiroki Maruyama, Jun Wada   +9 more
doaj   +1 more source