Unique Dominant Negative Mutation in the N-Terminal Mitochondrial Targeting Sequence of StAR, Causing a Variant Form of Congenital Lipoid Adrenal Hyperplasia | Zendy

María Sonia Baquedano | Zendy; Gabriela Guercio | Zendy; Roxana Marino | Zendy; Esperanza Berensztein | Zendy; Mariana Costanzo | Zendy; Marcela Bailez | Zendy; Elisa Vaiani | Zendy; Mercedes Maceiras | Zendy; Pablo Ramírez | Zendy; Eduardo Chaler | Zendy; Marco A. Rivarola | Zendy; Alicia Belgorosky | Zendy

Open Access

Unique Dominant Negative Mutation in the N-Terminal Mitochondrial Targeting Sequence of StAR, Causing a Variant Form of Congenital Lipoid Adrenal Hyperplasia

Author(s) -

María Sonia Baquedano,

Gabriela Guercio,

Roxana Marino,

Esperanza Berensztein,

Mariana Costanzo,

Marcela Bailez,

Elisa Vaiani,

Mercedes Maceiras,

Pablo Ramírez,

Eduardo Chaler,

Marco A. Rivarola,

Alicia Belgorosky

Publication year - 2012

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2012-2865

Subject(s) - steroidogenic acute regulatory protein , endocrinology , medicine , biology , compound heterozygosity , cholesterol side chain cleavage enzyme , mutation , exon , mitochondrion , gene , genetics , gene expression , cytochrome p450 , metabolism

Steroid acute regulatory (StAR) protein is a mitochondria-targeted protein that is part of the transduceosome complex crucial for transport of cholesterol to mitochondria. Recessive mutations cause classic and nonclassic congenital lipoid adrenal hyperplasia.

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