Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR
SLC10A7 regulates O-GalNAc glycosylation and Ca2+ homeostasis in the secretory pathway: insights into SLC10A7-CDG.
Durin Z et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.
Sharmin N et al.
Plos One, 2025
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
Zhang W et al.
Orphanet Journal of Rare Diseases, 2023
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.
Durin Z et al.
Human Genetics, 2022
Functional Analysis of Rare Genetic Variants in the Negative Regulator of Intracellular Calcium Signaling RCAS/SLC10A7.
Wannowius M et al.
Frontiers in Molecular Biosciences, 2021
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
Ondruskova N et al.
Journal of Inherited Metabolic Disease, 2020
The orphan solute carrier SLC10A7 is a novel negative regulator of intracellular calcium signaling.
Karakus E et al.
Scientific Reports, 2020
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Laugel-Haushalter V et al.
Frontiers in Genetics, 2019
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Dubail J et al.
Nature Communications, 2018
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