Results 1 to 10 of about 56,617 (329)

Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report

Journal of Mazandaran University of Medical Sciences, 2019
Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency.
Maryam Bagheri, Nasrin Bazgir, Sajjad salari   +2 more
doaj  

CoA protects against the deleterious effects of caloric overload in Drosophila [PDF]

, 2016
We developed a Drosophila model of T2D in which high sugar (HS) feeding leads to insulin resistance. In this model, adipose TG storage is protective against fatty acid toxicity and diabetes.
Baranski, Thomas J, Fink, Jill L, Musselman, Laura Palanker   +2 more
core   +2 more sources

Glycemia Regulation: From Feedback Loops to Organizational Closure. [PDF]

, 2020
Endocrinologists apply the idea of feedback loops to explain how hormones regulate certain bodily functions such as glucose metabolism. In particular, feedback loops focus on the maintenance of the plasma concentrations of glucose within a narrow range ...
Bich, Leonardo, Mossio, Matteo, Soto, Ana M.   +2 more
core   +5 more sources

One special question to start with: can HIF/NFkB be a target in inflammation? [PDF]

, 2015
Hypoxia and Inflammation are strictly interconnected with important consequences at clinical and therapeutic level. While cell and tissue damage due to acute hypoxia mostly leads to cell necrosis, in chronic hypoxia, cells that are located closer to ...
CARNEVALE, ILARIA, DE SANTIS, Elena, Limana, F, Perrone, Ga, POLLETTA, LUCIA, RUNCI, ALESSANDRA, RUSSO, Matteo Antonio, SANSONE, LUIGI, TAFANI, MARCO   +8 more
core   +1 more source

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease Mutação homozigótica intrônica no gene GAA em três irmãos com doença de Pompe de início tardio

Arquivos de Neuro-Psiquiatria, 2010
Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this
Anderson Kuntz Grzesiuk, Sueli Mieko Oba Shinjo, Roseli da Silva, Marcela Machado, Marcial Francis Galera, Suely Kazue Nagahashi Marie   +5 more
doaj   +1 more source

Rag GTPases are cardioprotective by regulating lysosomal function. [PDF]

, 2014
The Rag family proteins are Ras-like small GTPases that have a critical role in amino-acid-stimulated mTORC1 activation by recruiting mTORC1 to lysosome.
Guan, Kun-Liang, Jewell, Jenna L, Kim, Young Chul, Mo, Jung-Soon, Park, Hyun Woo, Russell, Ryan C, Sadoshima, Junichi, Sciarretta, Sebastiano, Wu, Xiaohui   +8 more
core   +2 more sources

Combined miRNA transcriptome and proteome analysis of extracellular vesicles in urine and blood from the Pompe mouse model

Annals of Medicine
Introduction Acid α-glucosidase (GAA) is a lysosomal enzyme that hydrolyzes glycogen to glucose. Deficiency of GAA causes Pompe disease (PD), also known as glycogen storage disease type II. The resulting glycogen accumulation causes a spectrum of disease
David Merberg, Rodney Moreland, Zhenqiang Su, Bin Li, Bob Crooker, Kathleen Palmieri, Simon W. Moore, Andrew Melber, Ruby Boyanapalli, Galen Carey, Mahindra Makhija   +10 more
doaj   +1 more source

Portacaval shunt for glycogen storage disease and hyperlipidaemia. [PDF]

, 1977
Complete portacaval shunt was used to treat 10 patients with glycogen storage disease. A favourable effect was noted on body growth and a number of metabolic abnormalities.
Benichou, J, Porter, KA, Putnam, CW, Starzl, TE   +3 more
core  

Posttranslational modifications of GLUT4 affect its subcellular localization and translocation [PDF]

, 2013
The facilitative glucose transporter type 4 (GLUT4) is expressed in adipose and muscle and plays a vital role in whole body glucose homeostasis. In the absence of insulin, only ~1% of cellular GLUT4 is present at the plasma membrane, with the vast ...
Bayer, Begum, Birnbaum, Bogan, Bogan, Bogan, Bryant, Cassie Welburn, Chang, Fujita, Garvey, Gill, Giorgino, Govers, Grasbon-Frodl, Gwyn Gould, Haga, Hardy, Herrmann, Hicke, Huang, Ing, James, James, Jessica Sadler, Jeyaraj, Karylowski, Kupriyanova, Lamb, Lau, Lawrence, Lawrence, Leto, Li, Liu, Livingstone, Mahajan, Marsh, Marshall, Marshall, Martin, Matunis, McCormick, Muller, Nia Bryant, Perera, Pessin, Pilch, Piper, Ren, Reusch, Saltiel, Semiz, Shi, Shi, Stöckli, Toh, Urbe, Vannucci, Varki, Watson, Williams, Yang, Yu, Zaarour   +64 more
core   +3 more sources

Headache: A Presentation of Pompe Disease; A Case Report

Caspian Journal of Neurological Sciences, 2017
Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme.
Fariborz Rezaeitalab, Reza Boostani, Ali Ghabeli-Juibary, Sara Mali   +3 more
doaj