A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: New insights into the pathogenicity of nonfarnesylated prelamin-A

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 5, 2011, Pages

  Le Dour, Caroline ^a,b   Schneebeli, Stéphane ^d   Bakiri, Fawzi ^g   Darcel, Françoise ^e   Jacquemont, Marie Line ^f   Maubert, Marie Anne ^c,i   Auclair, Martine ^a,b   Jeziorowska, Dorota ⁱ   Reznik, Yves ^h   Béréziat, Véronique ^b   Capeau, Jacqueline ^a,j   Lascols, Olivier ^a,b,i   Vigouroux, Corinne ^a,b,j  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c Centre National de la Recherche Scientifique   (France)

^d Groupe Hospitalier Sud Reunion   (France)

^e Service de Neurologie   (France)

^f Service de Néonatalogie   (France)

^g Centre Hospitalier Departemental Felix Guyon   (France)

^h CHU CÔTE DE NACRE   (France)

ⁱ HÔPITAL SAINT ANTOINE   (France)

^j HÔPITAL TENON   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADIPONECTIN; LAMIN A; LEPTIN; PRELAMIN A; PROTEIN PRECURSOR; UNCLASSIFIED DRUG;

ACANTHOSIS NIGRICANS; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CAUSAL ATTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE SEVERITY; DISEASE TRANSMISSION; FATTY LIVER; FEMALE; FIBROBLAST CULTURE; GENE EXPRESSION; GENE MUTATION; GENE TRANSFER; GENEALOGY; GENETIC ASSOCIATION; HAPLOTYPE; HEART MUSCLE CONDUCTION DISTURBANCE; HEART RHYTHM; HISTORY; HOMOZYGOSITY; HOMOZYGOUS MUTATION; HORMONE BLOOD LEVEL; HUMAN; HUMAN CELL; HYPERTRIGLYCERIDEMIA; LAST COMMON ANCESTOR; LIPODYSTROPHY; MALE; MOLECULAR PATHOLOGY; PENETRANCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN FARNESYLATION; PROTEIN MODIFICATION; PROTEIN PROCESSING; SENESCENCE;

MUS;

EID: 79955654386     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-2234     Document Type: Article

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