Associated Papers
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
39859398 (PubMed )
Supplement: ijms-26-00684-s001.zip › 20241023_Table_S4.pdf
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2024
iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.
Eade KT et al.
The Journal of Clinical Investigation, 2023
Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.
Wilson LMQ et al.
Genes, 2023
Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.
Rodrigues FG et al.
Journal of the Peripheral Nervous System : Jpns, 2022
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K et al.
Nature Metabolism, 2021
Demyelination in hereditary sensory neuropathy type-1C.
Saba S et al.
Annals of Clinical and Translational Neurology, 2020
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias.
Triplett J et al.
Journal of the Peripheral Nervous System : Jpns, 2019
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
Suriyanarayanan S et al.
Neuromolecular Medicine, 2019
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
Bode H et al.
Human Molecular Genetics, 2016
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
Suriyanarayanan S et al.
Neuromolecular Medicine, 2016
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity.
Ernst D et al.
Neuromolecular Medicine, 2015
Select a paper to view details