Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

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

Volumn 110, Issue 13, 2013, Pages 5091-5096

  Beetz, Christian ^a   Johnson, Adam ^b   Schuh, Amber L ^b   Thakur, Seema ^c   Varga, Rita Eva ^a   Fothergill, Thomas ^b   Hertel, Nicole ^a   Bomba Warczak, Ewa ^b   Thiele, Holger ^d   Nürnberg, Gudrun ^d   Altmüller, Janine ^d   Saxena, Renu ^e   Chapman, Edwin R ^b   Dent, Erik W ^b   Nürnberg, Peter ^d,e   Audhya, Anjon ^b  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c Fortis La Femme ^*  (India)

^d UNIVERSITY OF COLOGNE   (Germany)

^e SIR GANGA RAM HOSPITAL   (India)

Author keywords

COPII mediated secretion; ER exit site; Membrane trafficking

Indexed keywords

ADOLESCENT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CHILD; CONTROLLED STUDY; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC COUNSELING; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MOTOR NEUROPATHY; MOUSE; NONHUMAN; OPTIC NERVE ATROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN SECRETION; RAT; RUMINANT STOMACH; SENSORY NEUROPATHY;

AMINO ACID SUBSTITUTION; ANIMALS; AXONS; CELL LINE; ENDOPLASMIC RETICULUM; EXONS; FEMALE; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MICE; MICROTUBULES; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RATS; SPASTIC PARAPLEGIA, HEREDITARY; XENOPUS; ZEBRAFISH;

EID: 84875531545     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1217197110     Document Type: Article

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