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Dystroglycanopathies: Genetic Bases of Muscular Dystrophies Due to Alteration in the O-Glycosylation of α-Dystroglycan

Cubilla, M.A. ; Papazoglu, G.M. ; Asteggiano, C.G.

Journal of inborn errors of metabolism and screening, 2023, Vol.11 [Periódico revisado por pares]

Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)

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  • Título:
    Dystroglycanopathies: Genetic Bases of Muscular Dystrophies Due to Alteration in the O-Glycosylation of α-Dystroglycan
  • Autor: Cubilla, M.A. ; Papazoglu, G.M. ; Asteggiano, C.G.
  • Assuntos: Congenital muscular dystrophies (CMDs) ; dystroglycanopathies ; GENETICS & HEREDITY ; glycosylation ; muscle disorders ; α-dystroglycan protein (αDG)
  • É parte de: Journal of inborn errors of metabolism and screening, 2023, Vol.11
  • Descrição: Abstract Congenital muscular dystrophies (CMDs) are inherited, progressive and heterogeneous muscle disorders. A group of CMDs are dystroglycanopathies, also called α-dystroglycanopathies, where there is an abnormal glycosylation of protein α-dystroglycan. Hypoglycosylation of α-DG results in different severities of congenital muscular dystrophies and they present with progressive muscle weakness and loss of motor functions. This article first focuses on the CMDs, their classification according to the observed symptoms or the protein involved in the resulting phenotype. We then focus on dystroglycanopathies, the importance of its correct O-glycosylation of the α-dystroglycan given its important structural function, considering the enzymes involved in said glycosylation and the phenotypes that can result, to finally address current therapeutics for these diseases with the aim of increasing current knowledge.
  • Editor: Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
  • Idioma: Inglês;Português
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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