Results 11 to 20 of about 1,568 (176)

Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation [PDF]

Gut and Liver, 2009
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues.
박영년, 정기섭, 고홍
doaj   +6 more sources

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder [PDF]

Frontiers in Neurology, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Joseph R. Abraham, Frederick M. Allen, John Barnard, Daniela Schlatzer, Marvin R. Natowicz, Marvin R. Natowicz   +5 more
doaj   +2 more sources

Parkinson’s Disease Gene Biomarkers Screened by the LASSO and SVM Algorithms

Brain Sciences, 2023
Parkinson’s disease (PD) is a common progressive neurodegenerative disorder. Various evidence has revealed the possible penetration of peripheral immune cells in the substantia nigra, which may be essential for PD. Our study uses machine learning (ML) to
Yiwen Bao, Lufeng Wang, Fei Yu, Jie Yang, Dongya Huang   +4 more
doaj   +2 more sources

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China [PDF]

Genes and Diseases
Yikun Chen, Yan Shi, Yuan Gao, Yan Hu, Linying Zhou, Jingmei Hong, Shirui Gan, Xiang Lin, Wanjin Chen, Guorong Xu, Jin He   +10 more
doaj   +4 more sources

A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease.

Neuromuscular Disorders, 2014
We report the clinical, neuro-imaging, pathological and biochemical features of an Italian family in which two siblings have the Adult Polyglucosan Body Disease (APBD).
Lucà R, Lombardi L, LUCA', ROBERTA, ROPERTO, FRANCO PEPPINO, DI IORIO, GIUSEPPE, Napolitano F, SAMPAOLO, SIMONE, Esposito T, Gianfrancesco F, Roperto F   +9 more
core   +6 more sources

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study

Biomedicines, 2023
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ranges
Matheus Vernet Machado Bressan Wilke, Bibiana Mello de Oliveira, Rodrigo Tzovenos Starosta, Marwan Shinawi, Liang Lu, Mai He, Yamin Ma, Janis Stoll, Carolina Fischinger Moura de Souza, Ana Cecilia Menezes de Siqueira, Sandra Maria Gonçalves Vieira, Carlos Thadeu Cerski, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz   +13 more
doaj   +3 more sources

GBE1 Inhibition: Alternative Therapy for Lung Cancer by Altering Glucose Metabolism

Syntax Literate ; Jurnal Ilmiah Indonesia
Lung cancer represents a neoplastic malignancy within pulmonary tissue and is associated with the highest mortality rate attributed to cancer globally. Non-Small Cell Lung Cancer (NSCLC) constitutes the predominant category of lung cancer, accounting for
Istiqomah, Anisa, Ari Pujianto, Dwi, Ariani, Yulia   +2 more
core   +2 more sources

Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy

Journal of Lipid Research, 2017
Adult polyglucosan body disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss.
Rafael Alvarez, Jesús Casas, David J. López, Maitane Ibarguren, Ariadna Suari-Rivera, Silvia Terés, Francisca Guardiola-Serrano, Alexander Lossos, Xavier Busquets, Or Kakhlon, Pablo V. Escribá   +10 more
doaj   +2 more sources

The origin patterns, admixture, and selection signatures of the global gamecock populations [PDF]

Poultry Science
The gamecock is a special domestication product of chicken training for cockfighting. With the development of society, factors such as animal protection and social morality have led to a decline in the number of gamecocks.
Xufang Ren, Xiurong Zhao, Haiying Li, Huie Wang, Xue Cheng, Gang Wang, Xianyao Li, Lujiang Qu   +7 more
doaj   +2 more sources

Recent Findings in N6-Methyladenosine Modification and Significance in Pancreatic Cancer. [PDF]

Cancer Med
ABSTRACT Background RNA modifications are widely detected in cells and are involved in RNA structural stabilization and regulation of gene expression. In cancer cells, RNA modifications are altered, resulting in abnormal expression of numerous genes and promoting cancer growth. N1‐methyladenosine (m1A), N6‐methyladenosine (m6A), N3‐methylcytosine (m3C),
Hara T, Meng S, Arao Y, Saito Y, Inoue K, Rennie S, Ofusa K, Kitagawa T, Ishii H.   +8 more
europepmc   +2 more sources