Results 201 to 210 of about 6,177 (249)

Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Dermitzakis I, Gargani S, Manthou ME, Theotokis P.   +6 more
europepmc   +1 more source

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

Front Cardiovasc Med
Montanari C, Tagi VM, Tosi M, Stucchi E, Pisano EM, Raso I, Fini G, Fiori L, Mannarino S, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

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Glycogen branching enzyme in Lafora myoclonus epilepsy

Biochemical Medicine, 1982
Abstract Glycogen branching enzymes (EC 2.4.1.18) in extracts of cerebral cortex from a patient with Lafora myoclonus epilepsy and several normal subjects were compared in terms of activity and physical properties of the proteins. Branching-enzyme activity in Lafora cortex tissue was significantly higher than in controls. Gel-exclusion chromatography
C P, Zimmerman, A M, Gold
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Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV

Mammalian Genome, 2004
Comparative biochemical and histopathological evidence suggests that a deficiency in the glycogen branching enzyme, encoded by the GBE1 gene, is responsible for a recently identified recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses termed GSD IV.
Ward, T., Valberg, S., Adelson, D., Abbey, C., Binns, M., Mickelson, J.   +5 more
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Glycogen branching enzyme deficiency in adult polyglucosan body disease

Annals of Neurology, 1993
AbstractBranching enzyme activity was assayed in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi‐Jewish patients with adult polyglucosan body disease and 1 African‐American and 3 Caucasian patients with the same clinical and pathological features.
Bruno C., Servidei S., Shanske S., Karpati G., Carpenter S., McKee D., Barohn R. J., Hirano M., Rifai Z., Dimauro S.   +9 more
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Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma

Ultrastructural Pathology, 2015
Glycogen branching enzyme deficiency/Andersen disease can manifest with a spectrum of clinical phenotypes, making the diagnosis difficult. An 11-year-old Pakistani boy presented with a history of progressive weakness and delayed milestones. Echocardiography showed features of dilated cardiomyopathy.
Aanchal, Kakkar, Mehar Chand, Sharma, Aruna, Nambirajan, Chitra, Sarkar, Vaishali, Suri, Sheffali, Gulati   +5 more
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Schistosoma haematobium: Histochemistry of glycogen, glycogen phosphorylase a and glycogen branching enzyme in niridazole-treated females

International Journal for Parasitology, 1992
The body posterior to the ovary of Schistosoma haematobium females was investigated. Glycogen, glycogen phosphorylase a (EC 2.4.1.1) and glycogen branching enzyme (EC 2.4.1.18) activities were detected in the subtegumental muscle system, parenchyma and mature vitelline cells, whereas no activities were detected in the tegument and immature vitelline ...
T, Moczon, Z, Swiderski
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Mode of Action of Glycogen Branching Enzyme from Neurospora crassa

The Journal of Biochemistry, 1990
Neurospora crassa branching enzyme [EC 2.4.1.18] acted on potato amylopectin or amylose to convert them to highly branched glycogen-type molecules which consisted of unit chains of six glucose units. The enzyme also acted on the amylopectin beta-limit dextrin, indicating that the enzyme acted on internal glucose chains as well as outer chains.
A, Matsumoto, T, Nakajima, K, Matsuda
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Isolation and characterization of glycogen branching enzyme from rabbit liver

Biochemistry, 1983
Glycogen branching enzyme was isolated from rabbit liver. The highly purified enzyme shows a monomer molecular weight of 71 000 by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and apparent molecular weights of 93 000 by sucrose density gradient sedimentation and 52 000 by gel-exclusion chromatography on Sephacryl S-300.
C P, Zimmerman, A M, Gold
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