Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG-Reference-Cited by-同舟云学术

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Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

Published:2024-06 Issue:5 Volume:1870 Page:167163
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Gallego Diana,Serrano Mercedes,Cordoba-Caballero Jose,Gámez Alejandra,Seoane Pedro,Perkins James R.,Ranea Juan A.G.,Pérez Belén

Funder

Instituto de Salud Carlos III

Ministerio de Economía y Competitividad

Government of Spain Ministry of Economy and Competitiveness

European Regional Development Fund

European Commission

Publisher

Elsevier BV

Reference40 articles.

1. Global view of human protein glycosylation pathways and functions;Schjoldager;Nat. Rev. Mol. Cell Biol.,2020

2. Congenital disorders of glycosylation: still “hot” in 2020;Ondruskova;Biochim. Biophys. Acta Gen. Subj. 1865,2021

3. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia);Grünewald;Biochim. Biophys. Acta (BBA) - Mol. Basis Dis.,2009

4. Pharmacological chaperoning: a potential treatment for PMM2-CDG;Yuste-Checa;Hum. Mutat.,2017

5. Proteostasis regulators as potential rescuers of PMM2 activity;Vilas;Biochim. Biophys. Acta Mol. basis Dis.,2020

Cited by 1 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. HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation;Molecular Genetics and Metabolism;2024-09

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