Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum

Journal of Clinical Neuroscience

Volumn 21, Issue 6, 2014, Pages 1033-1039

  Miyamoto, Yuki ^a   Torii, Tomohiro ^a   Eguchi, Takahiro ^d   Nakamura, Kazuaki ^a   Tanoue, Akito ^a   Yamauchi, Junji ^a,b,c  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c Japan Health Sciences Foundation   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

Endoplasmic reticulum; FAM126A; Hypomyelinating leukodystrophy; Unfolded protein response

Indexed keywords

CYTOPLASM PROTEIN; PROTEIN FAM126A; UNCLASSIFIED DRUG; FAM126A PROTEIN, HUMAN; MEMBRANE PROTEIN; PROTEIN AGGREGATE; SIGNAL PEPTIDE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; FAM126 GENE; GENE; GENETIC ASSOCIATION; HYPOMYELINATING LEUKODYSTROPHY; LEUKODYSTROPHY; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN LOCALIZATION; UNFOLDED PROTEIN RESPONSE; WILD TYPE; ANIMAL; C57BL MOUSE; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; GENETICS; HUMAN; PATHOLOGY; PELIZAEUS MERZBACHER DISEASE; TRANSGENIC MOUSE;

ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; ENDOPLASMIC RETICULUM; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MUTATION, MISSENSE; PELIZAEUS-MERZBACHER DISEASE; PROTEIN AGGREGATES;

EID: 84899726229     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2013.09.014     Document Type: Article

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