Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan

Autores
Cubilla, Marisa Angelica; Papazoglu, Gabriela Magali; Asteggiano, Carla Gabriela
Año de publicación
2023
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
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.
Fil: Cubilla, Marisa Angelica. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
Fil: Papazoglu, Gabriela Magali. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
Fil: Asteggiano, Carla Gabriela. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
Materia
CONGENITAL MUSCULAR DYSTROPHIES (CMDS)
DYSTROGLYCANOPATHIES
GLYCOSYLATION
MUSCLE DISORDERS
Α-DYSTROGLYCAN PROTEIN (ΑDG)
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/219657
Acceder
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network_name_str CONICET Digital (CONICET)
spelling Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-DystroglycanCubilla, Marisa AngelicaPapazoglu, Gabriela MagaliAsteggiano, Carla GabrielaCONGENITAL MUSCULAR DYSTROPHIES (CMDS)DYSTROGLYCANOPATHIESGLYCOSYLATIONMUSCLE DISORDERSΑ-DYSTROGLYCAN PROTEIN (ΑDG)https://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Congenital 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.Fil: Cubilla, Marisa Angelica. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; ArgentinaFil: Papazoglu, Gabriela Magali. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; ArgentinaFil: Asteggiano, Carla Gabriela. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; ArgentinaLatin American Society Inborn Errors and Neonatal Screening2023-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/219657Cubilla, Marisa Angelica; Papazoglu, Gabriela Magali; Asteggiano, Carla Gabriela; Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan; Latin American Society Inborn Errors and Neonatal Screening; Journal of Inborn Errors of Metabolism and Screening; 11; 3-2023; 1-242326-4594CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100301&tlng=eninfo:eu-repo/semantics/altIdentifier/doi/10.1590/2326-4594-JIEMS-2022-0005info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:50:33Zoai:ri.conicet.gov.ar:11336/219657instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:50:33.704CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan
title Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan
spellingShingle Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan
Cubilla, Marisa Angelica
CONGENITAL MUSCULAR DYSTROPHIES (CMDS)
DYSTROGLYCANOPATHIES
GLYCOSYLATION
MUSCLE DISORDERS
Α-DYSTROGLYCAN PROTEIN (ΑDG)
title_short Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan
title_full Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan
title_fullStr Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan
title_full_unstemmed Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan
title_sort Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan
dc.creator.none.fl_str_mv Cubilla, Marisa Angelica
Papazoglu, Gabriela Magali
Asteggiano, Carla Gabriela
author Cubilla, Marisa Angelica
author_facet Cubilla, Marisa Angelica
Papazoglu, Gabriela Magali
Asteggiano, Carla Gabriela
author_role author
author2 Papazoglu, Gabriela Magali
Asteggiano, Carla Gabriela
author2_role author
author
dc.subject.none.fl_str_mv CONGENITAL MUSCULAR DYSTROPHIES (CMDS)
DYSTROGLYCANOPATHIES
GLYCOSYLATION
MUSCLE DISORDERS
Α-DYSTROGLYCAN PROTEIN (ΑDG)
topic CONGENITAL MUSCULAR DYSTROPHIES (CMDS)
DYSTROGLYCANOPATHIES
GLYCOSYLATION
MUSCLE DISORDERS
Α-DYSTROGLYCAN PROTEIN (ΑDG)
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv 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.
Fil: Cubilla, Marisa Angelica. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
Fil: Papazoglu, Gabriela Magali. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
Fil: Asteggiano, Carla Gabriela. Gobierno de la Provincia de Cordoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
description 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.
publishDate 2023
dc.date.none.fl_str_mv 2023-03
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/219657
Cubilla, Marisa Angelica; Papazoglu, Gabriela Magali; Asteggiano, Carla Gabriela; Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan; Latin American Society Inborn Errors and Neonatal Screening; Journal of Inborn Errors of Metabolism and Screening; 11; 3-2023; 1-24
2326-4594
CONICET Digital
CONICET
url http://hdl.handle.net/11336/219657
identifier_str_mv Cubilla, Marisa Angelica; Papazoglu, Gabriela Magali; Asteggiano, Carla Gabriela; Dystroglycanopathies: Genetic bases of muscular dystrophies due to alteration in the O-Glycosylation of α-Dystroglycan; Latin American Society Inborn Errors and Neonatal Screening; Journal of Inborn Errors of Metabolism and Screening; 11; 3-2023; 1-24
2326-4594
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100301&tlng=en
info:eu-repo/semantics/altIdentifier/doi/10.1590/2326-4594-JIEMS-2022-0005
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Latin American Society Inborn Errors and Neonatal Screening
publisher.none.fl_str_mv Latin American Society Inborn Errors and Neonatal Screening
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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