Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

PLoS Genetics

Volumn 7, Issue 10, 2011, Pages

  Pierson, Tyler Mark ^a,b   Adams, David ^a   Bonn, Florian ^c   Martinelli, Paola ^c   Cherukuri, Praveen F ^a   Teer, Jamie K ^a   Hansen, Nancy F ^a   Cruz, Pedro ^a   Mullikin, James C ^a   Blakesley, Robert W ^a   Golas, Gretchen ^a   Kwan, Justin ^b   Sandler, Anthony ^d   Fajardo, Karin ^a   Markello, Thomas ^a   Tifft, Cynthia ^a   Blackstone, Craig ^b   Rugarli, Elena I ^c   Langer, Thomas ^e,f   Gahl, William A ^a   Toro, Camilo ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c UNIVERSITY OF COLOGNE   (Germany)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^e UNIVERSITY OF COLOGNE   (Germany)

^f MAX PLANCK INSTITUTE FOR BIOLOGY OF AGEING   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AAA PROTEASE; PROTEINASE; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATE DEPENDENT PROTEINASE; AFG3L2 PROTEIN, HUMAN; M AAA PROTEASES; M-AAA PROTEASES; METALLOPROTEINASE; SPG7 PROTEIN, HUMAN;

AFGL2 GENE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME LOCALIZATION; ENZYME SUBSTRATE COMPLEX; EXOME; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; OLIGOMERIZATION; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; REGULATOR GENE; SEQUENCE ANALYSIS; SPASTIC ATAXIA NEUROPATHY SYNDROME; ADOLESCENT; AMINO ACID SEQUENCE; ANIMAL; BRAIN; CHILD; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; ENZYMOLOGY; GENETICS; GENOTYPE; HELA CELL; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOTE; METABOLISM; MITOCHONDRION; MOLECULAR GENETICS; MOUSE; PATHOLOGY; PROTEIN FOLDING; SIBLING; SPINOCEREBELLAR DEGENERATION; YEAST;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; ATP-DEPENDENT PROTEASES; BRAIN; CHILD; DIAGNOSIS, DIFFERENTIAL; EXOME; GENOTYPE; HELA CELLS; HOMOZYGOTE; HUMANS; MALE; METALLOENDOPEPTIDASES; MICE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN FOLDING; SIBLINGS; SPASTIC PARAPLEGIA, HEREDITARY; SPINOCEREBELLAR DEGENERATIONS; YEASTS;

EID: 80055087830     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002325     Document Type: Article

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