A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice

PLoS ONE

Volumn 9, Issue 8, 2014, Pages

  Ioakeimidis, Fotis ^a,b   Ott, Christine ^c   Kozjak Pavlovic, Vera ^c   Violitzi, Foteini ^a,b   Rinotas, Vagelis ^a,b   Makrinou, Eleni ^b   Eliopoulos, Elias ^a   Fasseas, Costas ^a   Kollias, George ^b   Douni, Eleni ^a,b  

^a AGRICULTURAL UNIVERSITY OF ATHENS   (Greece)

^b BIOMEDICAL SCIENCES RESEARCH CENTER ALEXANDER FLEMING   (Greece)

^c UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL CONTACT SITE PROTEIN; MITOCHONDRIAL PROTEIN; MITOFILIN; PROTEIN DNAJC11; PROTEIN SAM50; UNCLASSIFIED DRUG; DNAJC11 PROTEIN, HUMAN; PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL JUNCTION; CELL STRUCTURE; CELL VACUOLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DILATATION; DISEASE ASSOCIATION; DNA CONFORMATION; DNAJC11 GENE; DOWN REGULATION; ENDOPLASMIC RETICULUM; FEMALE; GENE; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC IDENTIFICATION; HELA CELL LINE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOPLASIA; IMMUNOPRECIPITATION; LETHALITY; LEUKOPENIA; LIMB TREMOR; LYMPHATIC SYSTEM DISEASE; MALE; MEMBRANE STRUCTURE; MITOCHONDRIAL CRISTAE; MITOCHONDRION; MOLECULAR WEIGHT; MOTONEURON; MOTOR DYSFUNCTION; MOTOR NEURON DISEASE; MOUSE; MUSCLE WEAKNESS; NEUROMUSCULAR DISEASE; NEUROPATHOLOGY; NONHUMAN; OUTER MEMBRANE; PATHOGENESIS; PHENOTYPE; RNA SPLICING; SPASTICITY; SPINAL CORD; SPLENIC HYPOPLASIA; THYMUS; TRANSGENE; WASTING SYNDROME; ANIMAL; GENETICS; HEK293 CELL LINE; LYMPHOCYTE; METABOLISM; MITOCHONDRIAL MEMBRANE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN TRANSPORT;

ANIMALS; BASE SEQUENCE; HEK293 CELLS; HUMANS; LYMPHOCYTES; MALE; MICE; MITOCHONDRIAL MEMBRANES; MOTOR NEURONS; MUTATION; PHENOTYPE; PROTEIN TRANSPORT; PROTEINS; RNA SPLICING; SPINAL CORD;

EID: 84905833829     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0104237     Document Type: Article

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