Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes

Nature Medicine

Volumn 22, Issue 4, 2016, Pages 388-396

  Francis, Kevin R ^a   Ton, Amy N ^a   Xin, Yao ^b   O'Halloran, Peter E ^a   Wassif, Christopher A ^a   Malik, Nasir ^a   Williams, Ian M ^a   Cluzeau, Celine V ^a   Trivedi, Niraj S ^c   Pavan, William J ^c   Cho, Wonhwa ^b   Westphal, Heiner ^a   Porter, Forbes D ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3BETA HYDROXYSTEROL DELTA REDUCTASE; BETA CATENIN; FRIZZLED PROTEIN; OXIDOREDUCTASE; UNCLASSIFIED DRUG; WNT PROTEIN; 7 DEHYDROCHOLESTEROL; 7-DEHYDROCHOLESTEROL; 7-DEHYDROCHOLESTEROL REDUCTASE; CHOLESTEROL;

ARTICLE; CHOLESTEROL SYNTHESIS; CONTROLLED STUDY; DOWN REGULATION; EPITHELIAL MESENCHYMAL TRANSITION; HUMAN; HUMAN CELL; NERVE CELL DIFFERENTIATION; NEURAL CREST; NEURAL STEM CELL; PHENOTYPE; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SMITH LEMLI OPITZ SYNDROME; ANIMAL; BIOSYNTHESIS; CELL DIFFERENTIATION; GENETICS; INDUCED PLURIPOTENT STEM CELL; METABOLISM; MOUSE; MUTATION; NERVE CELL; PATHOLOGY; TRANSPLANTATION; WNT SIGNALING PATHWAY;

ANIMALS; CELL DIFFERENTIATION; CHOLESTEROL; DEHYDROCHOLESTEROLS; HUMANS; INDUCED PLURIPOTENT STEM CELLS; MICE; MUTATION; NEURONS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SMITH-LEMLI-OPITZ SYNDROME; WNT SIGNALING PATHWAY;

EID: 84961389955     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm.4067     Document Type: Article

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