A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts

Neurobiology of Aging

Volumn 34, Issue 6, 2013, Pages 1708.e1-1708.e6

  Ingre, Caroline ^a,b   Landers, John E ^c   Rizik, Naji ^d   Volk, Alexander E ^d   Akimoto, Chizuru ^a   Birve, Anna ^a   Hübers, Annemarie ^d   Keagle, Pamela J ^c   Piotrowska, Katarzyna ^c   Press, Rayomand ^b   Andersen, Peter Munch ^a,d   Ludolph, Albert C ^d   Weishaupt, Jochen H ^d  

^a UMEÅ UNIVERSITY   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF ULM   (Germany)

Author keywords

Actin; ALS; Amyotrophic lateral sclerosis; Cytoskeleton; FTLD; Profilin 1

Indexed keywords

GENOMIC DNA; MUTANT PROTEIN; PROFILIN; PROFILIN I; UNCLASSIFIED DRUG;

ACTIN POLYMERIZATION; ADULT; AGED; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CELL SURVIVAL; COGNITIVE DEFECT; COHORT ANALYSIS; CONTROLLED STUDY; CYTOSKELETON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GERMANY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; MOTOR NEURON DISEASE; NERVE CELL DEGENERATION; NUCLEOTIDE SEQUENCE; PFN1 GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; UNITED STATES;

EID: 84875251623     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2012.10.009     Document Type: Article

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