Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

PLoS Genetics

Volumn 7, Issue 12, 2011, Pages

  Lefeber, Dirk J ^a   de Brouwer, Arjan P M ^b   Morava, Eva ^a   Riemersma, Moniek ^a   Schuurs Hoeijmakers, Janneke H M ^b   Absmanner, Birgit ^c   Verrijp, Kiek ^a   van den Akker, Willem M R ^b   Huijben, Karin ^a   Steenbergen, Gerry ^a   van Reeuwijk, Jeroen ^b   Jozwiak, Adam ^d   Zucker, Nili ^e   Lorber, Avraham ^f   Lammens, Martin ^a   Knopf, Carlos ^f   van Bokhoven, Hans ^b   Grünewald, Stephanie ^g   Lehle, Ludwig ^c   Kapusta, Livia ^h   Mandel, Hanna ^f   Wevers, Ron A ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF REGENSBURG   (Germany)

^d INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

^e SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^f TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h WOLFSON MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; DOLICHOL PHOSPHATE; LAMININ; DOLICHOL KINASE; DYSTROGLYCAN; PHOSPHOTRANSFERASE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING AFFINITY; BINDING SITE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGESTIVE CARDIOMYOPATHY; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; DOLICHOL KINASE GENE; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; FIBROBLAST; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SCREENING; HEART MUSCLE BIOPSY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTERMETHOD COMPARISON; MALE; MARKER GENE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NONHUMAN; NUCLEOTIDE SEQUENCE; O MANNOSYLATION; PRESCHOOL CHILD; PROTEIN BINDING; PROTEIN GLYCOSYLATION; PROTEIN MODIFICATION; SCHOOL CHILD; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; TEMPERATURE SENSITIVE MUTANT; WESTERN BLOTTING; GENE EXPRESSION; GENETICS; GLYCOSYLATION; HAPLOTYPE; HOMOZYGOTE; METABOLISM; PEDIGREE; RECESSIVE GENE; SACCHAROMYCES CEREVISIAE; SARCOLEMMA;

ADOLESCENT; CARDIOMYOPATHY, DILATED; CHILD; CHILD, PRESCHOOL; DOLICHOL PHOSPHATES; DYSTROGLYCANS; FEMALE; GENE EXPRESSION; GENES, RECESSIVE; GLYCOSYLATION; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SACCHAROMYCES CEREVISIAE; SARCOLEMMA;

EID: 84855283452     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002427     Document Type: Article

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