Results 191 to 200 of about 74,859 (354)

Chronic idiopathic myopathy in Icelandic horses: A case series

Equine Veterinary Journal, EarlyView.
Abstract Background Exertional myopathies are recognised as a cause of poor performance in equines. In Icelandic horses presenting reduced performance and/or multi‐limb lameness, no specific myopathy has been identified. Objectives To characterise the clinical presentation and histopathological findings in muscle biopsy samples from Icelandic horses ...
Sanni Hansen, Charlotte Hopster‐Iversen, Lise Berg, Julie Fjeldborg, Claire Massey, Richard J. Piercy, Helena Carstensen   +6 more
wiley   +1 more source

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. [PDF]

, 1995
Marian A. Kroos, Magna Van der Kraan, O. P. van Diggelen, Wim J. Kleijer, Arnold Reuser, M. J. van den Boogaard, M.G.E.M. Ausems, Hans Kristian Ploos van Amstel, Livia Poënaru, Marc Nicolino   +9 more
openalex   +1 more source

Activating AMPK improves pathological phenotypes due to mtDNA depletion

The FEBS Journal, EarlyView.
In a cellular model of mitochondrial disease characterized by progressive mitochondrial DNA (mtDNA) depletion, we found that advancing mitochondrial dysfunction triggers the early and specific activation of the mitochondria‐associated pool of AMP‐activated protein kinase (AMPK), a master regulator of energy homeostasis.
Gustavo Carvalho, Tran V. H. Nguyen, Bruno Repolês, Josefin M. E. Forslund, W. M. Ruchitha Rukmal Wijethunga, Farahnaz Ranjbarian, Isabela C. Mendes, Choco Michael Gorospe, Namrata Chaudhari, Micol Falabella, Mara Doimo, Sjoerd Wanrooij, Robert D. S. Pitceathly, Anders Hofer, Paulina H. Wanrooij   +14 more
wiley   +1 more source

Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report. [PDF]

Cureus, 2023
Elouali A, N'joumi C, Bennani A, Rkain M, Babakhouya A.   +4 more
europepmc   +1 more source

Cloning and Characterization of cDNAs Encoding a Candidate Glycogen Storage Disease Type 1b Protein in Rodents [PDF]

, 1998
Baochuan Lin, Borhane Annabi, Hisayuki Hiraiwa, Chi‐Jiunn Pan, Janice Y. Chou   +4 more
openalex   +1 more source

Stbd1 stimulates AMPK signaling and alleviates insulin resistance in an in vitro hepatocyte model

The FEBS Journal, EarlyView.
Stbd1 is an N‐myristoylated, ER‐resident, glycogen‐binding protein whose loss‐of‐function has been associated with insulin resistance. We report that AML12 hepatocytes overexpressing either N‐myristoylated Stbd1 or a non‐N‐myristoylated variant display enhanced AMPK signaling and improved insulin sensitivity, independently of differences in glycogen ...
Andria Theodoulou, Thilo Speckmann, Louiza Potamiti, Otto Baba, Tsuyoshi Morita, Anthi Drousiotou, Mihalis I. Panayiotidis, Annette Schürmann, Petros P. Petrou   +8 more
wiley   +1 more source

Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China. [PDF]

Orphanet J Rare Dis
Zhang X, Su Z, Wu J, Zeng H, Jiang X, Wang Y, Shen H, Xie X, Xiao Y, Tang Q, Luo X, Zhong X, Chen H, Lan J, Chen Y, Zeng X, Zhang H, Li Z, Zhang Y, Yang M.   +19 more
europepmc   +1 more source

Glucose production in type I glycogen storage disease

, 1982
Satish C. Kalhan, Carol Gilfillan, Kou Yi Tserng, Samuel M. Savin   +3 more
openalex   +1 more source

Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan [PDF]

, 1995
Susumu Kajihara
openalex   +1 more source

Diagnosing glycogen storage disease type 1b in adulthood: A case with multiple hepatocellular adenomas. [PDF]

Hepatol Forum
Boru YE, Moral K, Ekmen N, Cindoruk M.
europepmc   +1 more source