Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.

Paganini, Chiara; Costantini, Rossella; Superti-Furga, Andrea; Rossi, Antonio

Paganini, Chiara; Costantini, Rossella; Superti-Furga, Andrea; Rossi, Antonio.

Afiliación

Paganini C; Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Italy.
Costantini R; Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Italy.
Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, Switzerland.
Rossi A; Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Italy.

FEBS J ; 286(15): 3008-3032, 2019 08.

Article en En | MEDLINE | ID: mdl-31286677

Asunto(s)

Enfermedades del Tejido Conjuntivo/genética; Glicosaminoglicanos/biosíntesis; Osteocondrodisplasias/genética; Animales; Enfermedades del Tejido Conjuntivo/metabolismo; Glicosaminoglicanos/genética; Humanos; Mutación; Osteocondrodisplasias/metabolismo; Fenotipo

Palabras clave

Golgi; endoplasmic reticulum; genotype phenotype correlation; glycosaminoglycans; glycosyltransferases; proteoglycans; skeletal disorders; sulfotransferases

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enfermedades del Tejido Conjuntivo / Glicosaminoglicanos Límite: Animals / Humans Idioma: En Año: 2019 Tipo del documento: Article

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