The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

Brain

Volumn 129, Issue 7, 2006, Pages 1710-1719

  Panzeri, Chris ^a   De Palma, Clara ^a,b   Martinuzzi, Andrea ^c   Daga, Andrea ^d   De Polo, Gianni ^c   Bresolin, Nereo ^a   Miller, Christopher C ^e   Tudor, Elizabeth L ^e   Clementi, Emilio ^a   Bassi, Maria T ^a,c  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF CALABRIA   (Italy)

^c SCIENTIFIC INSTITUTE   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

ALS2; Alsin; Apoptosis; Cell death; Missense mutation

Indexed keywords

ALSIN; ANTIGEN; EARLY ENDOSOME ANTIGEN I; GENE PRODUCT; GUANINE NUCLEOTIDE EXCHANGE FACTOR; GUANOSINE TRIPHOSPHATASE; MUTANT PROTEIN; PROTEIN BAX; PROTEIN BCL XL; RAB PROTEIN; STAUROSPORINE; TRANSFERRIN RECEPTOR; UNCLASSIFIED DRUG;

ADULT; ALS2 GENE; AMYOTROPHIC LATERAL SCLEROSIS; APOPTOSIS; ARTICLE; CASE REPORT; CELL DEATH; CELL LINE; COGNITION; CYTOTOXICITY; DISEASE COURSE; DISEASE SEVERITY; DYNAMICS; DYSPHAGIA; ENDOSOME; FEMALE; GENE; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFERIOR OLIVE; JUVENILE PRIMARY LATERAL SCLEROSIS; MALE; MISSENSE MUTATION; MITOCHONDRION; MUSCLE ATROPHY; NERVE CELL; NEUROPROTECTION; NUCLEOTIDE SEQUENCE; PRIMARY LATERAL SCLEROSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; SENSATION; SIGNAL TRANSDUCTION;

ADULT; AMINO ACID SEQUENCE; APOPTOSIS; BLOTTING, WESTERN; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FEMALE; FLOW CYTOMETRY; GENOTYPE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOTOR NEURON DISEASE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PEDIGREE;

EID: 33745713871     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl104     Document Type: Article

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