A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): Insights into the pathophysiology of HGPS

Human Mutation

Volumn 27, Issue 6, 2006, Pages 524-531

  Denecke, Jonas ^a,e   Brune, Thomas ^b   Feldhaus, Tobias ^a   Robenek, Horst ^c   Kranz, Christian ^a   Auchus, Richard J ^d   Agarwal, Anil K ^d   Marquardt, Thorsten ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^c Inst for Arteriosclerosis Research   (Germany)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^e UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Aging disorder; HGPS; Hutchinson Gilford progeria syndrome; Lamin A; LMNA; Mandibuloacral dysplasia; Nuclear lamina; ZMPSTE24

Indexed keywords

LAMIN A; PRELAMIN A; UNCLASSIFIED DRUG;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; GENE; GENE MUTATION; HUMAN; HUMAN CELL; LMNA GENE; MALE; NUCLEAR LAMINA; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; PREMATURE AGING; PRIORITY JOURNAL; PROGERIA; PROTEIN PROCESSING; ZMPSTE24 GENE;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; LAMIN TYPE A; LIPOPROTEINS; MALE; MEMBRANE PROTEINS; METALLOPROTEASES; MUTATION; PROGERIA; RNA SPLICING;

EID: 33744985605     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20315     Document Type: Article

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