Vanni, Nicola, Fruscione, Floriana, Ferlazzo, Edoardo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Robbiano, Angela, Traverso, Monica, Sander, Thomas, Falace, Antonio ORCID: 0000-0001-5336-0251, Gazzerro, Elisabetta, Bramanti, Placido, Bielawski, Jacek, Fassio, Anna, Minetti, Carlo ORCID: 0000-0002-0640-1804, Genton, Pierre and Zara, Federico ORCID: 0000-0001-9744-5222 (2014). Impairment of Ceramide Synthesis Causes a Novel Progressive Myoclonus Epilepsy. Ann. Neurol., 76 (2). S. 206 - 213. HOBOKEN: WILEY. ISSN 1531-8249

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Abstract

Objective: Alterations of sphingolipid metabolism are implicated in the pathogenesis of many neurodegenerative disorders. Methods: We identified a homozygous nonsynonymous mutation in CERS1, the gene encoding ceramide synthase 1, in 4 siblings affected by a progressive disorder with myoclonic epilepsy and dementia. CerS1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of C18-ceramides. Results: We demonstrated that the mutation decreases C18-ceramide levels. In addition, we showed that downregulation of CerS1 in a neuroblastoma cell line triggers ER stress response and induces proapoptotic pathways. Interpretation: This study demonstrates that impairment of ceramide biosynthesis underlies neurodegeneration in humans.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Vanni, NicolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fruscione, FlorianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ferlazzo, EdoardoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Striano, PasqualeUNSPECIFIEDorcid.org/0000-0002-6065-1476UNSPECIFIED
Robbiano, AngelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Traverso, MonicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sander, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Falace, AntonioUNSPECIFIEDorcid.org/0000-0001-5336-0251UNSPECIFIED
Gazzerro, ElisabettaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bramanti, PlacidoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bielawski, JacekUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fassio, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Minetti, CarloUNSPECIFIEDorcid.org/0000-0002-0640-1804UNSPECIFIED
Genton, PierreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zara, FedericoUNSPECIFIEDorcid.org/0000-0001-9744-5222UNSPECIFIED
URN: urn:nbn:de:hbz:38-433137
DOI: 10.1002/ana.24170
Journal or Publication Title: Ann. Neurol.
Volume: 76
Number: 2
Page Range: S. 206 - 213
Date: 2014
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1531-8249
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ER STRESS; APOPTOSIS; DISEASEMultiple languages
Clinical Neurology; NeurosciencesMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/43313

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