Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models

Journal of the Peripheral Nervous System

Volumn 11, Issue 3, 2006, Pages 225-231

  Kabzińska, Dagmara ^a   Perez Olle, Raul ^b   Goryunov, Dmitry ^b   Drac, Hanna ^a,c   Ryniewicz, Barbara ^c   Hausmanowa Petrusewicz, Irena ^a   Kochański, Andrzej ^a   Liem, Ronald K H ^b  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b Columbia University College of Physicians and Surgeons ^*  (United States)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Cell culture models; Charcot Marie Tooth disease; NEFL gene mutations; Neurofilament assembly; Neurofilament transport

Indexed keywords

NEUROFILAMENT PROTEIN;

ADOLESCENT; AMINO ACID ANALYSIS; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL ULTRASTRUCTURE; CHILD; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUTATIONAL ANALYSIS; NERVE CELL CULTURE; NEUROFILAMENT; NEUROFILAMENT LIGHT SUBUNIT GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN TRANSPORT; SIBLING;

ADOLESCENT; BIOLOGICAL TRANSPORT; BLOTTING, WESTERN; CARCINOMA; CELL LINE, TUMOR; CHARCOT-MARIE-TOOTH DISEASE; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; ISOLEUCINE; MALE; METHIONINE; MODELS, MOLECULAR; MUTATION; NEUROFILAMENT PROTEINS; TRANSFECTION; VIMENTIN;

EID: 33747834601     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2006.00092.x     Document Type: Article

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