PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Brain

Volumn 138, Issue 6, 2015, Pages 1505-1517

  Jobling, Rebekah K ^a   Assoum, Mirna ^b,c   Gakh, Oleksandr ^d   Blaser, Susan ^a   Raiman, Julian A ^a   Mignot, Cyril ^e   Roze, Emmanuel ^e,f,g,h,i   Dürr, Alexandra ^e,f,g,h,i   Brice, Alexis ^e,f,g,h,i   Lévy, Nicolas ^b,c   Prasad, Chitra ^j   Paton, Tara ^k   Paterson, Andrew D ^k   Roslin, Nicole M ^k   Marshall, Christian R ^k   Desvignes, Jean Pierre ^b,c   Roëckel Trevisiol, Nathalie ^b,c   Scherer, Stephen W ^k,l   Rouleau, Guy A ^m   Mégarbané, André ^n,o   Isaya, Grazia ^d   Delague, Valérie ^b,c   Yoon, Grace ^a   more..

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b TIMONE HOSPITAL   (France)

^c AIX MARSEILLE UNIVERSITY   (France)

^d MAYO CLINIC   (United States)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f SORBONNE UNIVERSITÉ   (France)

^g INSERM   (France)

^h CNRS   (France)

ⁱ ICM   (France)

^j LONDON HEALTH SCIENCES CENTRE   (Canada)

^k HOSPITAL FOR SICK CHILDREN   (Canada)

^l UNIVERSITY OF TORONTO   (Canada)

^m MCGILL UNIVERSITY   (Canada)

ⁿ SAINT JOSEPH UNIVERSITY   (Lebanon)

^o Institut Je'rôme Lejeune   (France)

more..

Author keywords

Ataxia; Cerebellar atrophy; Mitochondrial processing peptidase; Mitochondrial protein processing; Non progressive; PMPCA

Indexed keywords

FLUOXETINE; FRATAXIN; MITOCHONDRIAL PROCESSING PEPTIDASE ALPHA SUBUNIT; MITOCHONDRIAL PROTEIN; PEPTIDASE; UNCLASSIFIED DRUG; METALLOPROTEINASE; MITOCHONDRIAL PROCESSING PEPTIDASE; PROTEIN SUBUNIT;

ADULT; ARTICLE; ATAXIC GAIT; AUTOSOMAL RECESSIVE DISORDER; CELL MATURATION; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CHROMOSOME 9Q34; CHROMOSOME DELETION; CLINICAL ARTICLE; DEPRESSION; DISEASE SEVERITY; DYSARTHRIA; DYSMETRIA; ELECTROMYOGRAPHY; FAMILY; FEMALE; FIBROBLAST; FRIEDREICH ATAXIA; GENE FUNCTION; GENETIC ANALYSIS; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; LEBANESE; LYMPHOBLASTOID CELL; MALE; MIDDLE AGED; MISSENSE MUTATION; NERVE CONDUCTION VELOCITY TEST; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SHORT STATURE; TREMOR; YOUNG ADULT; GENETICS; LEBANON; LYMPHOCYTE; METABOLISM; MUTATION; PEDIGREE; PROTEIN SUBUNIT; SPINOCEREBELLAR DEGENERATION;

ADULT; CHILD; HUMANS; LEBANON; LYMPHOCYTES; MALE; METALLOENDOPEPTIDASES; MITOCHONDRIAL PROTEINS; MUTATION; PEDIGREE; PROTEIN SUBUNITS; SPINOCEREBELLAR DEGENERATIONS; YOUNG ADULT;

EID: 84938702939     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv057     Document Type: Article

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