Cargando…

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

INTRODUCTION: Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and growth retardation. Oral galactose supplementation at...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nolting, Kristine, Park, Julien H., Tegtmeyer, Laura C., Zühlsdorf, Andrea, Grüneberg, Marianne, Rust, Stephan, Reunert, Janine, Du Chesne, Ingrid, Debus, Volker, Schulze-Bahr, Eric, Baxter, Robert C., Wada, Yoshinao, Thiel, Christian, van Schaftingen, Emile, Fingerhut, Ralph, Marquardt, Thorsten
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2017
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540825/ https://www.ncbi.nlm.nih.gov/pubmed/28794993 http://dx.doi.org/10.1016/j.ymgmr.2017.07.010

Ejemplares similares

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
por: Taday, Roman, et al.
Publicado: (2020)

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG)
por: Kemme, Lisa, et al.
Publicado: (2021)

Phosphoglucomutase Is Not the Target for Galactose Toxicity in Plants
por: Althammer, Martina, et al.
Publicado: (2020)

Mannose supplementation in PMM2-CDG
por: Taday, Roman, et al.
Publicado: (2021)

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
por: Marquardt, Thorsten, et al.
Publicado: (2020)

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening()
por: Reunert, Janine, et al.
Publicado: (2015)

L-Fucose treatment of FUT8-CDG
por: Park, Julien H., et al.
Publicado: (2020)

Uridine Treatment of the First Known Case of SLC25A36 Deficiency
por: Jasper, Luisa, et al.
Publicado: (2021)

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis
por: van Stein, Christina, et al.
Publicado: (2021)

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
por: Quitmann, Christina M., et al.
Publicado: (2021)

Phosphoglucomutase comes into the spotlight
por: Doello, Sofía, et al.
Publicado: (2023)

Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients
por: Klank, Sabrina, et al.
Publicado: (2023)

The Glaesserella parasuis phosphoglucomutase is partially required for lipooligosaccharide synthesis
por: Feng, Saixiang, et al.
Publicado: (2020)

Role of phosphoglucomutase in regulating trehalose metabolism in Nilaparvata lugens
por: Pan, Bi-Ying, et al.
Publicado: (2020)

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report
por: Belkheir, Aziza Miriam, et al.
Publicado: (2021)

Production and crystallization of α-phosphoglucomutase from Lactococcus lactis. Corrigendum
por: Nogly, Przemyslaw, et al.
Publicado: (2013)

Phosphoglucomutase 1 contributes to optimal cyst development in Toxoplasma gondii
por: Quach, Emily V., et al.
Publicado: (2022)

Polymorphisme de la phosphoglucomutase (PGM) dans l'espèce bovine
por: Ansay, M, et al.
Publicado: (1971)

Two Phosphoglucomutase Paralogs Facilitate Ionophore-Triggered Secretion of the Toxoplasma Micronemes
por: Saha, Sudeshna, et al.
Publicado: (2017)

Phosphoglucomutase 1 inhibits hepatocellular carcinoma progression by regulating glucose trafficking
por: Jin, Guang-Zhi, et al.
Publicado: (2018)

Isoenzymes of hexokinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase and lactate dehydrogenase in uterine cancer.
por: Marshall, M. J., et al.
Publicado: (1979)

Evaluation of Entamoeba histolytica recombinant phosphoglucomutase protein for serodiagnosis of amoebic liver abscess
por: Ning, Tan Zi, et al.
Publicado: (2013)

Constitutive homologous expression of phosphoglucomutase and transaldolase increases the metabolic flux of Fusarium oxysporum
por: Anasontzis, George E, et al.
Publicado: (2014)

CT295 Is Chlamydia trachomatis’ Phosphoglucomutase and a Type 3 Secretion Substrate
por: Triboulet, Sébastien, et al.
Publicado: (2022)

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

Phosphoglucomutase is absent in Trypanosoma brucei and redundantly substituted by phosphomannomutase and phospho-N-acetylglucosamine mutase
por: Bandini, Giulia, et al.
Publicado: (2012)

Inactivation of the phosphoglucomutase gene pgm in Corynebacterium glutamicum affects cell shape and glycogen metabolism
por: Seibold, Gerd M., et al.
Publicado: (2013)

Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1
por: Muenks, Andrew G., et al.
Publicado: (2017)

Implication of Potential Differential Roles of the Two Phosphoglucomutase Isoforms in the Protozoan Parasite Cryptosporidium parvum
por: Nie, Jiawen, et al.
Publicado: (2021)

Genetic validation of Aspergillus fumigatus phosphoglucomutase as a viable therapeutic target in invasive aspergillosis
por: Yan, Kaizhou, et al.
Publicado: (2022)

Stress response requires an efficient connection between glycogen and central carbon metabolism by phosphoglucomutases in cyanobacteria
por: Ortega-Martínez, Pablo, et al.
Publicado: (2022)

Reduction of the Cytosolic Phosphoglucomutase in Arabidopsis Reveals Impact on Plant Growth, Seed and Root Development, and Carbohydrate Partitioning
por: Malinova, Irina, et al.
Publicado: (2014)

Structure and Characterization of Phosphoglucomutase 5 from Atlantic and Baltic Herring—An Inactive Enzyme with Intact Substrate Binding
por: Gustafsson, Robert, et al.
Publicado: (2020)

miR-1293 acts as a tumor promotor in lung adenocarcinoma via targeting phosphoglucomutase 5
por: Chen, Bing, et al.
Publicado: (2021)

Identification, Characteristics and Function of Phosphoglucomutase (PGM) in the Agar Biosynthesis and Carbon Flux in the Agarophyte Gracilariopsis lemaneiformis (Rhodophyta)
por: Chen, Qionglin, et al.
Publicado: (2022)

Plastidial Phosphoglucomutase (pPGM) Overexpression Increases the Starch Content of Transgenic Sweet Potato Storage Roots
por: Wang, Yannan, et al.
Publicado: (2022)

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study
por: Welford, Richard W. D., et al.
Publicado: (2014)

(1)H, (15)N and (13)C backbone resonance assignments of the P146A variant of β-phosphoglucomutase from Lactococcus lactis in its substrate-free form
por: Cruz-Navarrete, F. Aaron, et al.
Publicado: (2019)

Down-regulation of phosphoglucomutase 3 mediates sulforaphane-induced cell death in LNCaP prostate cancer cells
por: Lee, Chan-Hee, et al.
Publicado: (2010)

Genetically-Determined Polymorphism of Nonspecific Esterases and Phosphoglucomutase in Eight Introduced Breeds of the Silkworm, Bombyx mori, Raised in Bulgaria
por: Staykova, Teodora
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_dlcjft2baj5348ttsktdhck5pi