Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome

Human Molecular Genetics

Volumn 26, Issue 17, 2017, Pages 3352-3361

  Matilainen, Sanna ^a   Carroll, Christopher J ^a   Richter, Uwe ^a   Euro, Liliya ^a   Pohjanpelto, Max ^a   Paetau, Anders ^a   Isohanni, Pirjo ^a,b   Suomalainen, Anu ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL RNA; EXORIBONUCLEASE; MESSENGER RNA; PNPT1 PROTEIN, HUMAN; POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE; RNA; RNA, MITOCHONDRIAL;

ARTICLE; BRAIN REGION; CARDIAC MUSCLE; CONTROLLED STUDY; DNA SEQUENCE; GENE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LEIGH DISEASE; MITOCHONDRIAL BIOGENESIS; MUSCLE BIOPSY; MYOBLAST; NATIVE POLYACRYLAMIDE GEL ELECTROPHORESIS; NEUROPATHOLOGY; PNPT1 GENE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE; RNA PROCESSING; STRIATE CORTEX; TISSUE SPECIFICITY; VIETNAMESE; WHOLE EXOME SEQUENCING; CASE REPORT; CHEMISTRY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; FEMALE; GENE EXPRESSION; GENETICS; INFANT; METABOLISM; MITOCHONDRION; NEWBORN; PRESCHOOL CHILD;

CHILD, PRESCHOOL; EXOME; EXORIBONUCLEASES; FEMALE; GENE EXPRESSION; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE; RNA; RNA, MESSENGER;

EID: 85040634127     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddx221     Document Type: Article

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