Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease

Annual Review of Genomics and Human Genetics

Volumn 15, Issue , 2014, Pages 173-194

  Platt, Frances M ^a   Wassif, Christopher ^a,b   Colaco, Alexandria ^a   Dardis, Andrea ^c   Lloyd Evans, Emyr ^d   Bembi, Bruno ^c   Porter, Forbes D ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

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

^c SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^d CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

cholesterol; Niemann Pick disease type C; Smith Lemli Opitz syndrome; sphingolipids; Tangier disease

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; ABC TRANSPORTER A1; APOLIPOPROTEIN B; CHOLESTEROL; EMOPAMIL BINDING PROTEIN; GLYCOSPHINGOLIPID; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; MIGLUSTAT; NPC1 PROTEIN; NPC2 PROTEIN; PROTEIN; SPHINGOMYELIN; SPHINGOSINE; STEROL; STEROL 5 DESATURASE; UNCLASSIFIED DRUG; VERY LOW DENSITY LIPOPROTEIN; OXIDOREDUCTASE;

ANTLEY BIXLER SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; CHOLESTEROL TRANSPORT; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM NEVUS AND LIMB DEFECTS SYNDROME; CONRADI HUNERMANN HAPPLER SYNDROME; DESMOSTEROLOSIS; DISORDERS OF CHOLESTEROL METABOLISM; GENE; GENE MUTATION; HUMAN; HYDROPS ECTOPIC CALCIFICATION MOTH EATEN SKELETAL DYSPLASIA; LATHOSTEROLOSIS; LIPID RAFT; MYELINATION; NADH STEROID DEHYDROGENASE LIKE GENE; NIEMANN PICK DISEASE; NONHUMAN; SMITH LEMLI OPITZ SYNDROME; TANGIER DISEASE; BIOSYNTHESIS; CHONDRODYSPLASIA; CHONDRODYSPLASIA PUNCTATA; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DEFICIENCY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; GENETICS; HOMEOSTASIS; INBORN ERROR OF STEROID METABOLISM; LIMB MALFORMATION; METABOLISM; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ANTLEY-BIXLER SYNDROME PHENOTYPE; CHOLESTEROL; CHONDRODYSPLASIA PUNCTATA; GENETIC DISEASES, X-LINKED; HOMEOSTASIS; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; LIMB DEFORMITIES, CONGENITAL; LIPID METABOLISM, INBORN ERRORS; LIPOPROTEINS, LDL; OSTEOCHONDRODYSPLASIAS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; STEROID METABOLISM, INBORN ERRORS;

EID: 84906858707     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-091212-153412     Document Type: Article

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