Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.

Trinchera, Marco; Parini, Rossella; Indellicato, Rossella; Domenighini, Ruben; dall'Olio, Fabio

Trinchera, Marco; Parini, Rossella; Indellicato, Rossella; Domenighini, Ruben; dall'Olio, Fabio.

Affiliation

Trinchera M; Department of Medicine and Surgery (DMC), University of Insubria, 21100 Varese, Italy. Electronic address: marco.trinchera@uninsubria.it.
Parini R; Pediatric Unit, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy.
Indellicato R; Department of Health Sciences, San Paolo Hospital, University of Milan, 20142 Milano, Italy.
Domenighini R; Department of Health Sciences, San Paolo Hospital, University of Milan, 20142 Milano, Italy.
dall'Olio F; Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, 40126 Bologna, Italy.

Mol Genet Metab ; 124(4): 230-237, 2018 08.

Article in En | MEDLINE | ID: mdl-29983310

Subject(s)

Congenital Disorders of Glycosylation/genetics; N-Acetylgalactosaminyltransferases/genetics; Sialyltransferases/genetics; Spastic Paraplegia, Hereditary/genetics; Animals; Congenital Disorders of Glycosylation/metabolism; Congenital Disorders of Glycosylation/pathology; Gangliosides/biosynthesis; Gangliosides/genetics; Glycoproteins/genetics; Glycosylation; Humans; Mice; Mice, Knockout; Mutation; Spastic Paraplegia, Hereditary/metabolism; Spastic Paraplegia, Hereditary/pathology

Key words

Ganglioside; Glycosylation disorder; Glycosyltransferase; Mouse model; Rare disease

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sialyltransferases / Spastic Paraplegia, Hereditary / N-Acetylgalactosaminyltransferases / Congenital Disorders of Glycosylation Limits: Animals / Humans Language: En Journal: Mol Genet Metab Year: 2018 Document type: Article

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