In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease

Fabry disease (FD) is a life-limiting disorder characterized by intracellular globotriaosylceramide (Gb3) accumulations. The underlying α-galactosidase A (α-GAL A) deficiency is caused by variants in the gene GLA. Variants of unknown significance (VUS) are frequently found in GLA and challenge clini...

Full description

Bibliographic Details
Published in:	Molecular Genetics and Metabolism Reports
Main Authors:	Maximilian Breyer, Julia Grüner, Alexandra Klein, Laura Finke, Katharina Klug, Markus Sauer, Nurcan Üçeyler
Format:	Article
Language:	English
Published:	Elsevier 2024-03-01
Subjects:	Fabry disease Variants of unknown significance C.376 A > G (p.S126G) Globotriaosylceramide Induced pluripotent stem cells Sensory neurons
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426923000757

Similar Items

Dysregulation of Immune Response Mediators and Pain-Related Ion Channels Is Associated with Pain-like Behavior in the GLA KO Mouse Model of Fabry Disease
by: Marlene Spitzel, et al.
Published: (2022-05-01)

Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease
by: Maximilian Breyer, et al.
Published: (2022-05-01)

Clinical heterogeneity in Fabry disease: A clinical case
by: Assel Issabekova, et al.
Published: (2023-08-01)

Fabry disease in W162C mutation: a case report of two patients and a review of literature
by: Alessandro Furia, et al.
Published: (2024-04-01)

Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso
by: Pablo Rodríguez Doyágüez, et al.
Published: (2023-12-01)

Anxiety-like behavior and altered hippocampal activity in a transgenic mouse model of Fabry disease
by: Kai Kummer, et al.
Published: (2025-02-01)

Ceria-Zirconia nanoparticles reduce intracellular globotriaosylceramide accumulation and attenuate kidney injury by enhancing the autophagy flux in cellular and animal models of Fabry disease
by: Jong Hun An, et al.
Published: (2022-03-01)

No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant
by: Irene Capelli, et al.
Published: (2024-06-01)

Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy
by: Marina Dutra-Clarke, et al.
Published: (2021-03-01)

Cognitive impairment and Fabry Disease: a case report with mutation S126G
by: Razza, Grazia, et al.
Published: (2016-11-01)

Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype
by: Zhiquan Liu, et al.
Published: (2024-09-01)

Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease
by: Tomoko Shiga, et al.
Published: (2021-12-01)

Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease
by: Alessia Lo Curto, et al.
Published: (2021-02-01)

Analysis of GPR126 polymorphisms and their relationship with scoliosis in Marfan syndrome and Marfan-like syndrome in Mexican patients
by: Maria Elena Soto, et al.
Published: (2023-11-01)

Recurrent fever of unknown origin: An overlooked symptom of Fabry disease
by: Yi Luo, et al.
Published: (2020-10-01)

Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience
by: Yuri Battaglia, et al.
Published: (2025-12-01)

Structure, ligands, and roles of GPR126/ADGRG6 in the development and diseases
by: Qi Li, et al.
Published: (2024-01-01)

Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice
by: Takahiro Tsukimura, et al.
Published: (2024-09-01)

Tobacco Budworm, Heliothis virescens (Fabricius) (Insecta: Lepidoptera: Noctuidae)
by: John L. Capinera
Published: (2012-10-01)

Tobacco Budworm, Heliothis virescens (Fabricius) (Insecta: Lepidoptera: Noctuidae)
by: John L. Capinera
Published: (2002-10-01)

Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions
by: Ken Kok, et al.
Published: (2021-02-01)

Impaired plasma membrane calcium ATPase activity and mitochondrial dysfunction contribute to calcium dysregulation in Fabry disease-related painful neuropathy
by: Francesco Formaggio, et al.
Published: (2025-09-01)

Clinical heterogeneity in Fabry disease
by: G. N. Salogub
Published: (2015-12-01)

Deficiencia de glucosa-6-fosfato deshidrogenasa en un paciente con síndrome de Down
by: Francisco R. Cammarata Scalisi, et al.
Published: (2012-07-01)

Differential expression of microRNA-411 and 376c is associated with hypertension in pregnancy
by: Hui-li Yang, et al.
Published: (2019-04-01)

Modificaciones al Relé NSR 376 SA para Grupos Electrógenos de la Tecnología MTU
by: Antonio Dean Labrada, et al.
Published: (2021-05-01)

Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model
by: Siamak Jabbarzadeh-Tabrizi, et al.
Published: (2020-11-01)

Sunn hemp (Crotalaria juncea L.): A summer cover crop for Florida vegetable producers
by: Danielle D. Treadwell, et al.
Published: (2008-02-01)

Cross-resistance pattern to four AHAS-inhibiting herbicides of tribenuron-methyl-resistant flixweed (Descurainia sophia) conferred by Asp-376-Glu mutation in AHAS
by: Wei DENG, et al.
Published: (2016-11-01)

<i>GLA</i> Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease
by: Ping Li, et al.
Published: (2024-03-01)

Fabry Disease with Genetic Variants of Unknown Significance and Concomitant Immunoglobulin A Nephropathy
by: Huan Zhou, et al.
Published: (2024-09-01)

Proteomic analysis unveils Gb3-independent alterations and mitochondrial dysfunction in a gla −/− zebrafish model of Fabry disease
by: Hassan Osman Alhassan Elsaid, et al.
Published: (2023-09-01)

Análise da consistência interna e fatorial confirmatório do IMPRAFE-126 com praticantes de atividades físicas gaúchos Reliability and confirmatory factorial analysis of the IMPRAFE-126 with gauchos' practitioners of physical activities
by: Marcos Alencar Abaide Balbinotti, et al.
Published: (2008-06-01)

A Novel Mutation in The GLA Gene Leading to Fabry Disease - A Case Report from Islamabad, Pakistan
by: Ayesha Ali Malick, et al.
Published: (2025-07-01)

A cysteine protease inhibitor GC376 displays potent antiviral activity against coxsackievirus infection
by: Yongkang Chen, et al.
Published: (2023-01-01)

Immunogenicity and antigenicity of the N-term repeat amino acid sequence of the Plasmodium falciparum P126 antigen
by: Dalma Maria Banic, et al.
Published: (1992-01-01)

Development of Lanzyme as the Potential Enzyme Replacement Therapy Drug for Fabry Disease
by: Mulan Deng, et al.
Published: (2022-12-01)

MiR-376a-3p increases cell apoptosis in acute myeloid leukemia by targeting MT1X
by: Xiangke Xin, et al.
Published: (2022-12-01)

Role of antimicrobial peptide DEFB126 mutation in pathogenesis of male idiopathic infertility
by: E. M. Khasanova, et al.
Published: (2021-11-01)

Exploring the presence of the GPR126 single nucleotide polymorphism (rs536714306) in periodontal patients of European ancestry
by: Eirini Chatzopoulou, et al.
Published: (2025-08-01)