A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration

Nature Communications

Volumn 4, Issue , 2013, Pages

  Nojima, Satoshi ^a,b   Toyofuku, Toshihiko ^a   Kamao, Hiroyuki ^c,d   Ishigami, Chie ^c   Kaneko, Jun ^c   Okuno, Tatsusada ^a,b   Takamatsu, Hyota ^a   Ito, Daisuke ^a,b   Kang, Sujin ^a,b   Kimura, Tetsuya ^a,b   Yoshida, Yuji ^a,b   Morimoto, Keiko ^a,b   Maeda, Yohei ^a,b   Ogata, Atsushi ^a,b   Ikawa, Masahito ^e   Morii, Eiichi ^b   Aozasa, Katsuyuki ^b   Takagi, Junichi ^f   Takahashi, Masayo ^c   Kumanogoh, Atsushi ^a,b,g  

^a OSAKA UNIVERSITY   (Japan)

^b OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c RIKEN Center for Biosystems Dynamics Research   (Japan)

^d KAWASAKI MEDICAL SCHOOL   (Japan)

^e OSAKA UNIVERSITY   (Japan)

^f OSAKA UNIVERSITY   (Japan)

^g JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

SEMAPHORIN; SEMAPHORIN 4A; STRUCTURAL PROTEIN; UNCLASSIFIED DRUG; SEMA4A PROTEIN, HUMAN; SEMA4A PROTEIN, MOUSE;

AMINO ACID; DISEASE PREVALENCE; GENE EXPRESSION; HOMEOSTASIS; MUTATION; NUMERICAL MODEL; PHENOTYPE; PROTEIN; SURVIVAL;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL SURVIVAL; CHEMICAL MODEL; CONTROLLED STUDY; ENDOSOME; GENE; GENE MUTATION; GENE TRANSFER; HOMEOSTASIS; MOUSE; NONHUMAN; PHENOTYPE; PHOTORECEPTOR; POINT MUTATION; PROTEIN CONFORMATION; PROTEIN LOCALIZATION; RETINA DEGENERATION; SEMA4A GENE; ANIMAL; C57BL MOUSE; CELL STRAIN COS1; CERCOPITHECUS; CHEMICAL STRUCTURE; CHEMISTRY; DOMINANT GENE; GENE LOCUS; GENE TARGETING; GENETICS; HUMAN; LIGHT; METABOLISM; MOUSE MUTANT; PATHOLOGY; PHOTORECEPTOR CELL; PIGMENT EPITHELIUM; PROTEIN TRANSPORT; RADIATION EXPOSURE; STAINING;

ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; ENDOSOMES; GENE KNOCK-IN TECHNIQUES; GENE TRANSFER TECHNIQUES; GENES, DOMINANT; GENETIC LOCI; HUMANS; LIGHT; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MODELS, MOLECULAR; PHOTORECEPTOR CELLS, VERTEBRATE; POINT MUTATION; PROTEIN TRANSPORT; RETINAL DEGENERATION; RETINAL PIGMENT EPITHELIUM; SEMAPHORINS; STAINING AND LABELING;

MLCS; MLOWN;

EID: 84879137922     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms2420     Document Type: Article

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