Cargando…

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking

The transmembrane domain recognition complex (TRC) pathway is required for the insertion of C-terminal tail-anchored (TA) proteins into the lipid bilayer of specific intracellular organelles such as the endoplasmic reticulum (ER) membrane. In order to facilitate correct insertion, the recognition co...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wilson, Matthew P, Durin, Zoé, Unal, Özlem, Ng, Bobby G, Marrecau, Thomas, Keldermans, Liesbeth, Souche, Erika, Rymen, Daisy, Gündüz, Mehmet, Köse, Gülşen, Sturiale, Luisa, Garozzo, Domenico, Freeze, Hudson H, Jaeken, Jaak, Foulquier, François, Matthijs, Gert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9396942/ https://www.ncbi.nlm.nih.gov/pubmed/35262690 http://dx.doi.org/10.1093/hmg/ddac055

Ejemplares similares

SLC37A4‐CDG: Second patient
por: Wilson, Matthew P., et al.
Publicado: (2021)

COG5-CDG: expanding the clinical spectrum
por: Rymen, Daisy, et al.
Publicado: (2012)

Correction: COG5-CDG: expanding the clinical spectrum
por: Rymen, Daisy, et al.
Publicado: (2013)

COG6‐CDG: Novel variants and novel malformation
por: Cirnigliaro, Lara, et al.
Publicado: (2022)

SLC35A2-CDG: Novel variant and review
por: Quelhas, Dulce, et al.
Publicado: (2021)

MAN1B1 Deficiency: An Unexpected CDG-II
por: Rymen, Daisy, et al.
Publicado: (2013)

How to find and diagnose a CDG due to defective N-glycosylation
por: Lefeber, Dirk J., et al.
Publicado: (2011)

ALG11-CDG: Three novel mutations and further characterization of the phenotype
por: Regal, L., et al.
Publicado: (2014)

Congenital disorders of glycosylation (CDG): state of the art in 2022
por: Francisco, Rita, et al.
Publicado: (2023)

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
por: Al-Owain, Mohammed, et al.
Publicado: (2010)

Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)
por: Brasil, Sandra, et al.
Publicado: (2022)

PMM2‐CDG and nephrotic syndrome: A case report
por: Banderali, Giuseppe, et al.
Publicado: (2022)

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
por: Pettinato, Fabio, et al.
Publicado: (2021)

Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient
por: Lebredonchel, Elodie, et al.
Publicado: (2021)

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
por: Francisco, Rita, et al.
Publicado: (2020)

Genotype-Phenotype Correlations in PMM2-CDG
por: Vaes, Laurien, et al.
Publicado: (2021)

CDG Therapies: From Bench to Bedside
por: Brasil, Sandra, et al.
Publicado: (2018)

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
por: Vajro, Pietro, et al.
Publicado: (2018)

SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card
por: Jaeken, Jaak, et al.
Publicado: (2020)

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG)
por: Altassan, Ruqaiah, et al.
Publicado: (2022)

Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years
por: Van Hees, Ines, et al.
Publicado: (2019)

ALG8-CDG: novel patients and review of the literature
por: Höck, Michaela, et al.
Publicado: (2015)

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
por: Witters, Peter, et al.
Publicado: (2017)

Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations
por: Jaeken, Jaak
Publicado: (2020)

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG
por: Wong, Sunnie Yan-Wai, et al.
Publicado: (2017)

Platelets and Defective N-Glycosylation
por: Mammadova-Bach, Elmina, et al.
Publicado: (2020)

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
por: Moravej, Hossein, et al.
Publicado: (2019)

Golgi function and dysfunction in the first COG4-deficient CDG type II patient
por: Reynders, Ellen, et al.
Publicado: (2009)

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
por: García-López, Roberto, et al.
Publicado: (2016)

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
por: García-López, Roberto, et al.
Publicado: (2016)

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
por: Witters, Peter, et al.
Publicado: (2021)

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
por: Witters, Peter, et al.
Publicado: (2021)

The Swedish COG6‐CDG experience and a comprehensive literature review
por: Xia, Zhi‐Jie, et al.
Publicado: (2022)

A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency
por: Cline, Abigail, et al.
Publicado: (2012)

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
por: Serrano, Mercedes, et al.
Publicado: (2015)

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
por: de la Morena-Barrio, Maria E, et al.
Publicado: (2013)

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
por: Pascoal, C., et al.
Publicado: (2022)

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report
por: Lebredonchel, E., et al.
Publicado: (2022)

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature
por: Abdel Ghaffar, Tawhida Y., et al.
Publicado: (2020)

Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis
por: Sturiale, Luisa, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_nhddlfbmu2bub7qisml339vp2s