Results 181 to 190 of about 3,871 (190)

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

Human Mutation, 2009
Lourdes R Desviat
exaly  

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

Human Mutation, 2016
Patricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, Jarl Underhaug, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Aurora Martinez, Belén Pérez   +8 more
openaire   +1 more source

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)

Molecular and Cellular Proteomics, 2016
Samanta Cajic, Christian Thiel, René Hennig   +2 more
exaly  

Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients

Thrombosis Research, 2014
Maria E De La Morena-Barrio, Jose Rivera, Kathleen Freson   +2 more
exaly  

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

International Journal of Molecular Sciences, 2018
Valentina Citro, Maria Monticelli, Bruno Hay Mele   +2 more
exaly  

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

European Journal of Human Genetics, 1999
exaly  

Status of PMm2

2009
openaire   +1 more source

PMM2-CDG (Congenital disorders of glycosylation, type Ia)

2020
openaire   +1 more source

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

Biochimica Et Biophysica Acta - Molecular Basis of Disease
exaly  

Functional characterization of PMM2-CDG patient-derived iPSCs

Büttner, Falk F. R., Thiesler, Christina Theda, Hoffmann, Dirk, Cajic, Samanta, Hennig, René   +4 more
openaire   +1 more source