New and potential strategies for the treatment of PMM2-CDG-Reference-Cited by-同舟云学术

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New and potential strategies for the treatment of PMM2-CDG

Published:2020-11 Issue:11 Volume:1864 Page:129686
ISSN:0304-4165
Container-title:Biochimica et Biophysica Acta (BBA) - General Subjects
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - General Subjects

Author:

Gámez Alejandra,Serrano Mercedes,Gallego Diana,Vilas Alicia,Pérez Belén

Funder

Fundación Isabel Gemio/Fundación La Caixa

European Regional Development Fund

Generalitat de Catalunya

Publisher

Elsevier BV

Subject

Molecular Biology,Biochemistry,Biophysics

Reference78 articles.

1. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia);Matthijs;Hum. Mutat.,2000

2. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency);Grunewald;Am. J. Hum. Genet.,2001

3. N-linked protein glycosylation in the endoplasmic reticulum;Breitling;Cold Spring Harb. Perspect. Biol.,2013

4. Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients;Freeze;Biochim. Biophys. Acta,2009

5. Mannose metabolism: more than meets the eye;Sharma;Biochem. Biophys. Res. Commun.,2014

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers;PLOS Genetics;2024-09-11

2. AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG);Molecular Genetics and Metabolism Reports;2024-03

3. Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis;Orphanet Journal of Rare Diseases;2024-02-02

4. Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions;Genetics in Medicine;2024-02

5. Exploring miRNA–target gene pair detection in disease with coRmiT;Briefings in Bioinformatics;2024-01-22

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