Unambiguous tracking of protein phosphorylation by fast, high-resolution FOSY NMR [PDF]
arXiv, 2021 Phosphorylation is a prototypical example of post-translational modifications (PTMs) that dynamically modulate protein func-tion, where dysregulation is often implicated in disease. NMR provides information on the exact location and time course of PTMs with atomic resolution and under nearly physiological conditions, including inside living cells, but ...
arxiv
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]
, 2017 Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia +13 more
core +1 more source
Mutation analysis of in a patient with glycogen storage disease-type Ib
Journal of International Medical Research, 2019 Objective The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I.
Yamei Zhang, Huihui Sun, Naijun Wan
doaj +1 more source
A whole-body multi-scale mathematical model for dynamic simulation of the metabolism in man [PDF]
arXiv, 2022 We propose a whole-body model of the metabolism in man as well as a generalized approach for modeling metabolic networks. Using this approach, we are able to write a large metabolic network in a systematic and compact way. We demonstrate the approach using a whole-body model of the metabolism of the three macronutrients, carbohydrates, proteins and ...
arxiv
Edge-Based Compartmental Modeling for Infectious Disease Spread Part III: Disease and Population Structure [PDF]
PLoS ONE 8(8): e69162. 2013, 2011 We consider the edge-based compartmental models for infectious disease spread introduced in Part I. These models allow us to consider standard SIR diseases spreading in random populations. In this paper we show how to handle deviations of the disease or population from the simplistic assumptions of Part I.
arxiv +1 more source
Glycogen storage disease type I (GSD I) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2012 Review on Glycogen storage disease type I (GSD I), with data on clinics, and the genes involved.
Mollet, Boudjemline A +5 more
openaire +3 more sources
Total hepatectomy and liver transplant for hepatocellular adenomatosis and focal nodular hyperplasia. [PDF]
, 1992 Extensive hepatocellular adenomatosis (HA) and focal nodular hyperplasia (FNH) represent a proliferation of hepatic cells that occurs most frequently in women.
Bronsther, O +4 more
core +4 more sources
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage [PDF]
, 2020 Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle.
Dellgren, Göran +10 more
core +1 more source
Orphanet Journal of Rare Diseases, 2021 Background and aims Glycogen storage disease type I (GSD-I) is an autosomal recessive disorder of carbohydrate metabolism, resulting in limited production of glucose and excessive glycogen storage in the liver and kidneys.
Yi-Chia Chan +8 more
doaj +1 more source
Liver transplantation for type IV glycogen storage disease [PDF]
, 1991 TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis +17 more
core +1 more source