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

Wilson, Lindsey M Q; Saba, Sadaf; Li, Jun; Prasov, Lev; Miller, Jason M L

Wilson, Lindsey M Q; Saba, Sadaf; Li, Jun; Prasov, Lev; Miller, Jason M L.

Afiliación

Wilson LMQ; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Saba S; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Li J; Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Prasov L; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Miller JML; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, MI 48105, USA.

Genes (Basel) ; 14(4)2023 04 18.

Article en En | MEDLINE | ID: mdl-37107689

Asunto(s)

Neuropatías Hereditarias Sensoriales y Autónomas; Telangiectasia; Masculino; Humanos; Esfingolípidos/genética; Esfingolípidos/metabolismo; Serina C-Palmitoiltransferasa/genética; Serina C-Palmitoiltransferasa/química; Serina; Telangiectasia/genética

Palabras clave

ceramides; deoxyceramides; hereditary sensory and autonomic neuropathy type 1 (HSAN1); macular telangiectasia type 2 (MacTel2); serine palmitoyltransferase complex 1 (SPTLC1); serine palmitoyltransferase complex 2 (SPTLC2); sphingolipids

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Telangiectasia / Neuropatías Hereditarias Sensoriales y Autónomas Límite: Humans / Male Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

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