Results 21 to 30 of about 417 (116)

The Action of Recombinant Human Lysosomal α-Glucosidase (rhGAA) on Human Liver Glycogen: Pathway to Complete Degradation

International Journal of Translational Medicine, 2021
Glycogen is present in all tissues, but it is primarily stored in the liver and in muscle. As a branched chain carbohydrate, it is broken down by phosphorylase and debrancher enzymes, which are cytoplasmic.
Allen K. Murray
doaj   +1 more source

Unravelling inclusion body myositis using a patient‐derived fibroblast model

Journal of Cachexia, Sarcopenia and Muscle, Volume 14, Issue 2, Page 964-977, April 2023., 2023
Abstract Background Inclusion body myositis (IBM) is an inflammatory myopathy clinically characterized by proximal and distal muscle weakness, with inflammatory infiltrates, rimmed vacuoles and mitochondrial changes in muscle histopathology. There is scarce knowledge on IBM aetiology, and non‐established biomarkers or effective treatments are available,
Judith Cantó‐Santos, Laura Valls‐Roca, Ester Tobías, Francesc Josep García‐García, Mariona Guitart‐Mampel, Anna Esteve‐Codina, Beatriz Martín‐Mur, Mercedes Casado, Rafael Artuch, Estel Solsona‐Vilarrasa, José Carlos Fernandez‐Checa, Carmen García‐Ruiz, Carles Rentero, Carlos Enrich, Pedro J. Moreno‐Lozano, José César Milisenda, Francesc Cardellach, Josep M. Grau‐Junyent, Glòria Garrabou   +18 more
wiley   +1 more source

Exsolved Ru on BaCexOy Catalysts for Thermochemical Ammonia Synthesis

International Journal of Energy Research, Volume 2023, Issue 1, 2023., 2023
Ammonia (NH3) is a carbon‐free and hydrogen‐rich (17.8 wt% H2) chemical that has the potential to revolutionize the energy sector. Compared with hydrogen (H2), NH3 can be easily liquefied, stored, and transported globally. However, the conventional thermocatalytic process to synthesize NH3 accounts for 2% of global energy consumption and 1.2% of CO2 ...
Arash Badakhsh, Hizkia Manuel Vieri, Hyuntae Sohn, Sung Pil Yoon, Sun Hee Choi, Pawan Kumar Kulriya   +5 more
wiley   +1 more source

Validation of pencil beam scanning proton therapy with multi‐leaf collimator calculated by a commercial Monte Carlo dose engine

Journal of Applied Clinical Medical Physics, Volume 23, Issue 12, December 2022., 2022
Abstract This study aimed to evaluate the clinical beam commissioning results and lateral penumbra characteristics of our new pencil beam scanning (PBS) proton therapy using a multi‐leaf collimator (MLC) calculated by use of a commercial Monte Carlo dose engine.
Yuki Tominaga, Yusuke Sakurai, Junya Miyata, Shuichi Harada, Takashi Akagi, Masataka Oita   +5 more
wiley   +1 more source

Synthetic Strategy towards a Carbocyclic N‐Acetylneuraminic Acid

European Journal of Organic Chemistry, Volume 2022, Issue 27, July 21, 2022., 2022
A novel route towards a carbocyclic N‐acetylneuraminic acid mimic is presented. Although the route ran into difficulties in the final stage, it can still act as a useful guide towards future carbocyclic activity‐based probes for sialidases. Abstract In the study of glycosidases, a class of activity‐based probes (ABPs), that are carbocyclic mimics of ...
Pieter de Saint Aulaire, Jorin Hoogenboom, Michiel T. Uiterweerd, Han Zuilhof, Tom Wennekes   +4 more
wiley   +1 more source

GNE protein expression and subcellular distribution are unaltered in HIBM

Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the role of GNE mutations in HIBM pathogenesis, GNE protein expression was analyzed.
Mitrani-Rosenbaum S, Hinderlich S, Lochmuller H, Tournev I, Merlini L, Aleo A, Argov Z, Krause S, Walter MC   +8 more
core   +5 more sources

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

Journal of Cellular and Molecular Medicine, Volume 25, Issue 22, Page 10494-10503, November 2021., 2021
Abstract GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the GNE gene. An estimated prevalence of 1~21/1,000,000 leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder.
Kai‐Yue Zhang, Hui‐Qian Duan, Qiu‐Xiang Li, Yue‐Bei Luo, Fang‐Fang Bi, Kun Huang, Huan Yang   +6 more
wiley   +1 more source

GNE myopathy: History, etiology, and treatment trials

Frontiers in Neurology, 2022
GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the tibialis anterior muscles and with slow progression over time, which largely ...
Jeffrey Mullen, Khalid Alrasheed, Tahseen Mozaffar, Tahseen Mozaffar, Tahseen Mozaffar   +4 more
doaj   +1 more source

A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1. [PDF]

PLoS ONE, 2012
We describe a novel autosomal dominant hereditary inclusion body myopathy (HIBM) that clinically mimics limb girdle muscular dystrophy in a Chinese family. We performed a detailed clinical assessment of 36 individuals spanning four generations.
Yan Lu, Xingang Li, Min Wang, Xin Li, Feng Zhang, Yun Li, Meng Zhang, Yuwei Da, Jun Yu, Jianping Jia   +9 more
doaj   +1 more source

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

BMC Neurology, 2007
Background Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment.
Dorward Heidi, Ciccone Carla, Sonies Barbara, Harris-Love Michael, Shrader Joseph, Manoli Irini, Joe Galen, Rakocevic Goran, Sparks Susan, Krasnewich Donna, Huizing Marjan, Dalakas Marinos C, Gahl William A   +12 more
doaj   +1 more source