User: Guest  Login
Document type:
journal article 
Author(s):
Haack, Tobias B; Jackson, Christopher B; Murayama, Kei; Kremer, Laura S; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hart...    »
 
Title:
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. 
Abstract:
Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and essential amino acids such as valine. Here, we describe the broad phenotypic spectrum and pathobiochemistry of individuals with autosomal-recessive ECHS1 deficiency.Using exome sequencing, we identified ten unrelated individuals carrying compound heterozygous or homozygous mutations in ECHS1. Functional investigations in patient-derived fibroblast cell lin...    »
 
Journal title abbreviation:
Annals of clinical and translational neurology 
Year:
2015 
Journal volume:
Journal issue:
Pages contribution:
492-509 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
2328-9503 
TUM Institution:
Institut für Humangenetik