LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: Implications for dissecting the underlying pathomechanisms in this condition

DMM Disease Models and Mechanisms

Volumn 7, Issue 5, 2014, Pages 535-545

  Hart, Lesley ^a   Rauch, Anita ^b   Carr, Antony M ^a   Vermeesch, Joris R ^c   O'Driscoll, Mark ^a  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

LETM1; Mitochondria; Wolf Hirschhorn syndrome

Indexed keywords

CALCIUM ION; MITOCHONDRIAL PERMEABILITY TRANSITION PORE; REACTIVE OXYGEN METABOLITE; SUPEROXIDE; CALCIUM; CALCIUM BINDING PROTEIN; CARRIER PROTEIN; LETM1 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ANIMAL CELL; ARTICLE; CALCIUM CELL LEVEL; CASE REPORT; CHANNEL GATING; CLINICAL FEATURE; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE SILENCING; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; HYPERPOLARIZATION; LETM1 GENE; MITOCHONDRIAL MEMBRANE POTENTIAL; MITOCHONDRION; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; WOLF HIRSCHHORN SYNDROME; ANIMAL; CELL LINE; CHROMOSOME 4; GENETICS; INTRACELLULAR SPACE; LYMPHOCYTE; METABOLISM; PATHOLOGY;

ANIMALS; CALCIUM; CALCIUM-BINDING PROTEINS; CELL LINE; CHROMOSOMES, HUMAN, PAIR 4; GENE KNOCKDOWN TECHNIQUES; HAPLOINSUFFICIENCY; HUMANS; INTRACELLULAR SPACE; LYMPHOCYTES; MEMBRANE POTENTIAL, MITOCHONDRIAL; MEMBRANE PROTEINS; MICE; MITOCHONDRIA; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; SUPEROXIDES; WOLF-HIRSCHHORN SYNDROME;

EID: 84900453180     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.014464     Document Type: Article

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