A loss-of-function cysteine mutant in fibulin-3 (EFEMP1) forms aberrant extracellular disulfide-linked homodimers and alters extracellular matrix composition.

Woodard, DaNae R; Daniel, Steffi; Nakahara, Emi; Abbas, Ali; DiCesare, Sophia M; Collier, Gracen E; Hulleman, John D

Woodard, DaNae R; Daniel, Steffi; Nakahara, Emi; Abbas, Ali; DiCesare, Sophia M; Collier, Gracen E; Hulleman, John D.

Afiliación

Woodard DR; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Daniel S; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Nakahara E; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Abbas A; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
DiCesare SM; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Collier GE; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Hulleman JD; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Hum Mutat ; 43(12): 1945-1955, 2022 12.

Article en En | MEDLINE | ID: mdl-35998264

Asunto(s)

Cisteína; Disulfuros; Humanos; Cisteína/genética; Metaloproteinasa 2 de la Matriz/genética; Proteínas de la Matriz Extracelular/genética; Matriz Extracelular/genética; Mutación

Palabras clave

EFEMP1; disulfide bond; extracellular matrix; fibulin-3; marfanoid syndrome

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cisteína / Disulfuros Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

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