Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila

Human Molecular Genetics

Volumn 25, Issue 9, 2016, Pages 1846-1856

  Chao, Yu Hsin ^a   Robak, Laurie A ^a,c   Xia, Fan ^a   Koenig, Mary K ^b   Adesina, Adekunle ^a   Bacino, Carlos A ^a   Scaglia, Fernando ^a   Bellen, Hugo J ^a,c   Wangler, Michael F ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PYRUVATE DEHYDROGENASE; CYTOSKELETON PROTEIN; DNM1L PROTEIN, HUMAN; DRP1 PROTEIN, DROSOPHILA; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANOSINE TRIPHOSPHATASE; MICROTUBULE ASSOCIATED PROTEIN; MITOCHONDRIAL PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN DISEASE; CASE REPORT; CELL ORGANELLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DNM1L GENE; DRP1 GENE; FEMALE; FETUS; GENE; GENE OVEREXPRESSION; HETEROZYGOTE; HUMAN; IN VIVO STUDY; INFANT DISEASE; INFANTILE ENCEPHALOPATHY; LETHALITY; MALE; MISSENSE MUTATION; MITOCHONDRION; MORPHOLOGY; MUSCLE; NERVE CELL; NEWBORN; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENICITY; PEROXISOME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SALIVARY GLAND; TRANSGENIC DROSOPHILA; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; DROSOPHILA MELANOGASTER; EXOME; GENETICS; GROWTH, DEVELOPMENT AND AGING; INFANT; INFANTILE SPASM; METABOLISM; PATHOLOGY; PEDIGREE; PROTEIN DOMAIN; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; CYTOSKELETAL PROTEINS; DROSOPHILA MELANOGASTER; EXOME; FEMALE; GTP PHOSPHOHYDROLASES; GTP-BINDING PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PEDIGREE; PEROXISOMES; PHENOTYPE; PROTEIN DOMAINS; SEQUENCE HOMOLOGY, AMINO ACID; SPASMS, INFANTILE;

EID: 84991406649     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw059     Document Type: Article

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