Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

Proceedings of the National Academy of Sciences of the United States of America

Volumn 100, Issue 26, 2003, Pages 16041-16046

  Yamanaka, Koji ^a   Vande Velde, Christine ^a   Eymard Pierre, Eleonore ^b   Bertini, Enrico ^c   Boespflug Tanguy, Odile ^b   Cleveland, Don W ^a  

^a LUDWIG INSTITUTE FOR CANCER RESEARCH   (United States)

^b UNIVERSITÉ CLERMONT AUVERGNE   (France)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GUANINE DERIVATIVE; GUANINE NUCLEOTIDE EXCHANGE FACTOR; PROTEIN ALS2; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL CULTURE; CELL MEMBRANE; CHROMATIN CONDENSATION; CONTROLLED STUDY; CYTOPLASM; ENDOSOME; GENE EXPRESSION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; LYMPHOCYTE; MOTOR NEURON DISEASE; NERVOUS TISSUE; PRIMARY LATERAL SCLEROSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STABILITY;

AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; CELL CYCLE PROTEINS; ENDOSOMES; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MODELS, ANIMAL; MOLECULAR SEQUENCE DATA; MOTOR NEURON DISEASE; MUTATION; NEURONS; NUCLEAR PROTEINS; PEPTIDE FRAGMENTS; RATS;

EID: 0346734108     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.2635267100     Document Type: Article

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