Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

European Journal of Human Genetics

Volumn 25, Issue 1, 2016, Pages 79-84

  Alodaib, Ahmad ^a,b,c   Sobreira, Nara ^d   Gold, Wendy A ^a,c   Riley, Lisa G ^a,c   Van Bergen, Nicole J ^e   Wilson, Meredith J ^a,c,f   Bennetts, Bruce ^a,c,f   Thorburn, David R ^e,g   Boehm, Corinne ^d   Christodoulou, John ^a,c,e,f,g  

^a UNIVERSITY OF SYDNEY   (Australia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e ROYAL CHILDREN'S HOSPITAL   (Australia)

^f UNIVERSITY OF SYDNEY   (Australia)

^g UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MESSENGER RNA; MITOCHONDRIAL PROTEIN; POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE; POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE 1; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RNA; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; EXORIBONUCLEASE; PNPT1 PROTEIN, HUMAN;

AXONAL NEUROPATHY; CASE REPORT; CHRONIC RESPIRATORY TRACT DISEASE; CONFERENCE PAPER; CONSERVED SEQUENCE; CONTROLLED STUDY; DISEASE SEVERITY; ENTEROPATHY; ENZYME ACTIVITY; EXOME; FIBROBLAST; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; MALE; MITOCHONDRION; NEUROLOGIC DISEASE; OPTIC NERVE ATROPHY; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; RNA TRANSLATION; RNA TRANSPORT; SYSTEMIC DISEASE; VESTIBULOCOCHLEAR NERVE DISEASE; AXON; BIOSYNTHESIS; CHEMISTRY; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PROTEIN QUATERNARY STRUCTURE;

AXONS; EXOME; EXORIBONUCLEASES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MALE; MITOCHONDRIA; MUTATION; OPTIC ATROPHY; OXIDATIVE PHOSPHORYLATION; PEDIGREE; PROTEIN STRUCTURE, QUATERNARY;

EID: 84992065822     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.128     Document Type: Conference Paper

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