Suchergebnisse - "PGM1 protein, human"

PubPharm (57)

1

Genetic modifiers in glycosylation pathways : Is there a link between PMM2 and PGM1?

enthalten in: Journal of inherited metabolic disease | 2023

von Quelhas, D. | Jaeken, J. | Azevedo, L.

2

Enzyme dysfunction at atomic resolution : Disease-associated variants of human phosphoglucomutase-1

enthalten in: Biochimie | 2021

von Beamer, L.

3

Phosphoglucomutase-1 deficiency : Early presentation, metabolic management and detection in neonatal blood spots

enthalten in: Molecular genetics and metabolism | 2020

von Conte, F. | Morava, E. | Bakar, N. | +16

4

A missense variant remote from the active site impairs stability of human phosphoglucomutase 1

enthalten in: Journal of inherited metabolic disease | 2020

von Stiers, K. | Hansen, R. | Daghlas, B. | +4

5

Potential effects of long-term abuse of anabolic androgen steroids on human skeletal muscle

enthalten in: The Journal of sports medicine and physical fitness | 2020

von Yu, J. | Isaksson, A. | Rova, A. | +3

6

AMPK-dependent phosphorylation of HDAC8 triggers PGM1 expression to promote lung cancer cell survival under glucose starvation

enthalten in: Cancer letters | 2020

von Li, Y. | Liang, R. | Sun, M. | +9

7

Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily

enthalten in: Scientific reports | 2020

von Backe, P. | Laerdahl, J. | Kittelsen, L. | +3

8

The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood

enthalten in: Forensic science international. Genetics | 2019

von Fernlund, E. | Andersson, O. | Ellegård, R. | +4

9

The association between alcohol metabolism and genetic variants of ADH1A, SRPRB, and PGM1 in Korea

enthalten in: Alcohol (Fayetteville, N.Y.) | 2019

von Lee, Y. | Yoo, M. | Kim, H. | +5

10

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review

enthalten in: Neuromuscular disorders : NMD | 2019

von Tian, W. | Luan, X. | Zhou, H. | +6

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