Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family

Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family

Hereditary sensory and autonomic neuropathy type 1 (HSAN1/HSN1) is a peripheral neuropathy most commonly associated with pathogenic variants in the <i>serine palmitoyltransferase complex (SPTLC1, SPTLC2)</i> genes, which are responsible for sphingolipid biosynthesis. Recent reports have...

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Bibliographic Details
Main Authors:	Lindsey M. Q. Wilson, Sadaf Saba, Jun Li, Lev Prasov, Jason M. L. Miller
Format:	Article
Language:	English
Published:	MDPI AG 2023-04-01
Series:	Genes
Subjects:	macular telangiectasia type 2 (MacTel2) serine palmitoyltransferase complex 1 (SPTLC1) serine palmitoyltransferase complex 2 (SPTLC2) hereditary sensory and autonomic neuropathy type 1 (HSAN1) ceramides sphingolipids
Online Access:	https://www.mdpi.com/2073-4425/14/4/931

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