Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes

American Journal of Human Genetics

Volumn 100, Issue 4, 2017, Pages 617-634

  Nevin, Zachary S ^a   Factor, Daniel C ^a   Karl, Robert T ^a   Douvaras, Panagiotis ^b   Laukka, Jeremy ^c   Windrem, Martha S ^d   Goldman, Steven A ^d,e   Fossati, Valentina ^b   Hobson, Grace M ^f,g,h   Tesar, Paul J ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b New York Stem Cell Foundation Laboratory   (United States)

^c MEDICAL COLLEGE OF OHIO   (United States)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

^f NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^g UNIVERSITY OF DELAWARE   (United States)

^h THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

endoplasmic reticulum stress; genotype phenotype correlation; hiPSC; human induced pluripotent stem cell; leukodystrophy; myelin; oligodendrocyte; Pelizaeus Merzbacher disease; PLP1; PMD; proteolipid protein 1

Indexed keywords

KRUPPEL LIKE FACTOR 4; MESSENGER RNA; OLIGODENDROCYTE TRANSCRIPTION FACTOR 2; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; TRANSCRIPTION FACTOR NKX2.2; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR SOX1; UNCLASSIFIED DRUG; PLP1 PROTEIN, HUMAN;

ARTICLE; CELL DIFFERENTIATION; CELL STRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; EMBRYO; ENDOPLASMIC RETICULUM STRESS; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE NUMBER; GENE TRIPLICATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; IN VITRO STUDY; INDUCED PLURIPOTENT STEM CELL; LEUKODYSTROPHY; MYELINATION; OLIGODENDROCYTE PROGENITOR; OLIGODENDROGLIA; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; CELL CULTURE TECHNIQUE; CHILD; FEMALE; GENETICS; MALE; METABOLISM; PATHOLOGY; PRESCHOOL CHILD;

CELL CULTURE TECHNIQUES; CHILD; CHILD, PRESCHOOL; ENDOPLASMIC RETICULUM STRESS; FEMALE; HUMANS; INDUCED PLURIPOTENT STEM CELLS; MALE; MYELIN PROTEOLIPID PROTEIN; OLIGODENDROGLIA; PELIZAEUS-MERZBACHER DISEASE;

EID: 85016508738     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.03.005     Document Type: Article

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