SMA-Causing Missense Mutations in Survival motor neuron (Smn) Display a Wide Range of Phenotypes When Modeled in Drosophila

PLoS Genetics

Volumn 10, Issue 8, 2014, Pages

  Praveen, Kavita ^a,c   Wen, Ying ^a   Gray, Kelsey M ^a   Noto, John J ^a   Patlolla, Akash R ^a   Van Duyne, Gregory D ^b   Matera, A Gregory ^a  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c DUKE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DROSOPHILA PROTEIN; RNA BINDING PROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN; SMN PROTEIN, DROSOPHILA; SURVIVAL MOTOR NEURON PROTEIN;

ANIMAL; CHEMISTRY; DISEASE MODEL; DROSOPHILA; GENETICS; HUMAN; MISSENSE MUTATION; MOTONEURON; PATHOLOGY; PHENOTYPE; PROTEIN MULTIMERIZATION; SPINAL MUSCULAR ATROPHY; STRUCTURE ACTIVITY RELATION;

ANIMALS; DISEASE MODELS, ANIMAL; DROSOPHILA; DROSOPHILA PROTEINS; HUMANS; MOTOR NEURONS; MUSCULAR ATROPHY, SPINAL; MUTATION, MISSENSE; PHENOTYPE; PROTEIN MULTIMERIZATION; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RNA-BINDING PROTEINS; SMN COMPLEX PROTEINS; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84939631300     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004489     Document Type: Article

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