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Article

Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay.

eNeuro - 1 Nov 2023

Drehmann Paul, Milanos Sinem, Schaefer Natascha, Kasaragod Vikram Babu, Herterich Sarah, Holzbach-Eberle Ulrike, Harvey Robert J, Villmann Carmen

Abstract excerpt

Human startle disease is associated with mutations in distinct genes encoding glycine receptors, transporters or interacting proteins at glycinergic synapses in spinal cord and brainstem. However, a significant number of diagnosed patients does not carry a mutation in the common genes GLRA1, GLRB, and SLC6A5 Recently, studies on solute carrier 7 subfamily 10 (SLC7A10; Asc-1, alanine-serine-cysteine transporter)...

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Identifiers

PMID: 37903619
DOI: 10.1523/ENEURO.0263-23.2023
PMCID: PMC10668224

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay.PMID 37903619Read ↗

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