Article

Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM)

2023-04-24

Abstract excerpt

SLC1A4 (solute carrier family 1 member 4, also referred to as ASCT1, Alanine/Serine/Cysteine/Threonine-preferring Transporter 1) is a sodium-dependent neutral amino acid transporter. It is highly expressed in many tissues, including the brain, where it is expressed primarily on astrocytes and plays key roles in neuronal differentiation and development, maintaining neurotransmitter homeostasis, and N-methyl-D-aspar...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 87ce3ba8-21c3-5c60-a7d4-6a53f608e6b0
DOI: 10.21203/rs.3.rs-2839029/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM)DOI 10.21203/rs.3.rs-2839029/v1Read

A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation.Semantic proximity Read

A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.Semantic proximity Read

A mouse model of a patient derived P544L mutation in the Slc6a8 gene shows hypoactivity and cognitive deficits.Semantic proximity Read

Sodium channelopathies in neurodevelopmental disorders.Semantic proximity Read

Expanding the Phenotypic Spectrum of SLC1A4-Related Spastic Tetraplegia: A Case With Novel Multisystem Features.Semantic proximity Read

Paternal knockout of Slc38a4 /SNAT4 causes placental hypoplasia associated with intrauterine growth restriction in miceSemantic proximity Read

The alanine-serine-cysteine-1 (Asc-1) transporter controls glycine levels in the brain and is required for glycinergic inhibitory transmission.Semantic proximity Read

SLC1A4 and Serine Homeostasis: Implications for Neurodevelopmental and Neurodegenerative DisordersSemantic proximity Read

The astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neuronsSemantic proximity Read

SLC44A1 deficiency impedes myelin development in the central nervous systemSemantic proximity Read

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in <i>Tuba4a</i>Semantic proximity Read

Sodium channels and neurological disease: insights from Scn8a mutations in the mouse.Semantic proximity Read