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glycogen storage disease

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https://www.readbyqxmd.com/read/28630259/triacylglycerol-mimetics-regulate-membrane-interactions-of-glycogen-branching-enzyme-implications-for-therapy
#1
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
Adult Polyglucosan Body Disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss. The disease is caused by aberrant glycogen branching enzyme (GBE1-Y329S) yielding less branched, globular and soluble glycogen which tends to aggregate. We explore here whether, despite being a soluble enzyme, GBE1 activity is regulated by protein-membrane interactions. Since soluble proteins can contact a wide variety of cell membranes, we investigated the interactions of purified wild-type and Y329S GBE1 proteins with different types of model membranes (liposomes)...
June 19, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28629821/glycogen-reduction-in-myotubes-of-late-onset-pompe-disease-patients-using-antisense-technology
#2
Elisa Goina, Paolo Peruzzo, Bruno Bembi, Andrea Dardis, Emanuele Buratti
Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and late-onset forms. Most late-onset patients share a splicing mutation c.-32-13T > G in intron 1 of the GAA gene that prevents efficient recognition of exon 2 by the spliceosome. In this study, we have mapped the splicing silencers of GAA exon 2 and developed antisense morpholino oligonucleotides (AMOs) to inhibit those regions and rescue normal splicing in the presence of the c...
June 16, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28627441/clinical-and-genetic-characteristics-of-17-chinese-patients-with-glycogen-storage-disease-type-ixa
#3
Jiangwei Zhang, Yuheng Yuan, Mingsheng Ma, Yan Liu, Weimin Zhang, Fengxia Yao, Zhengqing Qiu
Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having GSD type IXa. Clinical symptoms of our patients included hepatomegaly, growth retardation, and liver dysfunction. The clinical and biochemical manifestations improved and even disappeared with age. We detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots in this research...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28612263/tight-metabolic-control-plus-ace-inhibitor-therapy-improves-gsd-i-nephropathy
#4
Gyongyi O Okechuku, Lawrence R Shoemaker, Monika Dambska, Laurie M Brown, Justin Mathew, David A Weinstein
The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. In contrast to type Ia, little is known regarding the prevalence of kidney disease in GSD Ib, 0, III, VI, and IX...
June 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28593894/5th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-15th-2016
#5
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The fifth SEE meeting on rare diseases (RDs) was held in Macedonian Academy of Sciences and Arts (MASA) the November 11th, 2016. Several lectures dealt with mucopolysaccharidosis, glycogen storage diseases and the possibilities for their diagnosis and treatment. Enzyme replacement treatment (ERT), its availability, effects (or the lack of it) on the brain, and further prospects of eventual gene treatment were comprehensively exposed and discussed. Special accent was on Gaucher, Morquio IVA, Hunter and the audience was given new knowledge on the complexities of diagnosis and treatment...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28592044/-dermatomyositis-associated-with-glycogen-storage-disease-type-%C3%A2-a-case-report
#6
H Zhao, X Y Zhang, R Wei
No abstract text is available yet for this article.
June 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28592009/-clinical-and-gene-mutation-analysis-of-three-children-with-late-onset-glycogen-storage-disease-type-%C3%A2-with-hypertrophic-cardiomyopathy
#7
J H Luo, W J Qiu, D Fang, J Ye, L S Han, H W Zhang, Y G Yu, L L Liang, X F Gu
Objective: To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability. Method: Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood Spot of the patients.DNA was extracted from peripheral blood in all the patients and their parents and subjected to polymerase chain reaction and directly sequencing of GAA gene...
June 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28584628/involvement-of-glycogen-debranching-enzyme-in-bladder-cancer
#8
Benjamin Weinhaus, Sunny Guin
Bladder cancer is the most common malignancy of the urinary system, however the molecular pathways underlying this disease are incompletely understood. To understand new regulators of bladder cancer progression, the authors carried out a functional genomic screen which identified glycogen debranching enzyme (AGL) as a novel regulator of bladder cancer growth. Glycogen debranching enzyme is involved in glycogen breakdown and germline loss of function mutation of this gene leads to glycogen storage disease type III...
June 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28568353/prevention-of-complications-in-glycogen-storage-disease-type-ia-with-optimization-of-metabolic-control
#9
REVIEW
M Dambska, E B Labrador, C L Kuo, D A Weinstein
Prior to 1971, type Ia glycogen storage disease was marked by life-threatening hypoglycemia, lactic acidosis, severe failure to thrive, and developmental delay. With the introduction of continuous feeds in the 1970s and cornstarch in the 1980s, the prognosis improved, but complications almost universally developed. Changes in the management of type Ia glycogen storage disease have resulted in improved metabolic control, and this manuscript reviews the increasing evidence that complications can be delayed or prevented with optimal metabolic control as previously was seen in diabetes...
June 1, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28558013/downregulation-of-sirt1-signaling-underlies-hepatic-autophagy-impairment-in-glycogen-storage-disease-type-ia
#10
Jun-Ho Cho, Goo-Young Kim, Chi-Jiunn Pan, Javier Anduaga, Eui-Ju Choi, Brian C Mansfield, Janice Y Chou
A deficiency in glucose-6-phosphatase-α (G6Pase-α) in glycogen storage disease type Ia (GSD-Ia) leads to impaired glucose homeostasis and metabolic manifestations including hepatomegaly caused by increased glycogen and neutral fat accumulation. A recent report showed that G6Pase-α deficiency causes impairment in autophagy, a recycling process important for cellular metabolism. However, the molecular mechanism underlying defective autophagy is unclear. Here we show that in mice, liver-specific knockout of G6Pase-α (L-G6pc-/-) leads to downregulation of sirtuin 1 (SIRT1) signaling that activates autophagy via deacetylation of autophagy-related (ATG) proteins and forkhead box O (FoxO) family of transcriptional factors which transactivate autophagy genes...
May 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28542051/critical-airway-stenosis-in-an-adolescent-male-with-pompe-disease-and-thoracic-lordosis-a-case-report
#11
B Randall Brenn, Mary T Theroux, Suken A Shah, William G Mackenzie, Robert Heinle, Mena T Scavina
An adolescent male with late-onset Pompe disease (glycogen storage disease type II) presented with a history of restrictive airway disease and a near-cardiorespiratory arrest during anesthesia for a liver biopsy initially thought to be due to bronchospasm. During a subsequent posterior spinal fusion procedure, he suffered cardiorespiratory arrest resulting in the procedure being aborted. Bronchoscopy performed shortly after resuscitation revealed an undiagnosed narrowing of the distal trachea and bronchi. This is the first description of a patient with lateonset Pompe disease with undiagnosed critical tracheal stenosis due to the progression of thoracic lordosis, which was ultimately relieved by posterior spinal fusion...
May 23, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28511025/co-inheritance-of-the-membrane-frizzled-related-protein-ocular-phenotype-and-glycogen-storage-disease-type-ib
#12
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott, Sami Al Kalbani, Khalid Al Thihli
AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region...
May 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28502559/3-utr-snp-rs2229611-in-g6pc1-affects-mrna-stability-expression-and-glycogen-storage-disease-type-ia-risk
#13
Sellamuthu Karthi, Mohan Rajeshwari, Amirtharaj Francis, Matheshwaran Saravanan, Perumal Varalakshmi, Henry Houlden, Kumarasamy Thangaraj, Balasubramaniem Ashokkumar
The frequency of rs2229611, previously reported in Chinese, Caucasians, Japanese and Hispanics, was investigated for the first time in Indian ethnicity. We analyzed its role in the progression of Glycogen Storage Disease type-Ia (GSD-Ia) and breast cancer. Genotype data on rs2229611 revealed that the risk of GSD-Ia was higher (P=0.0195) with CC compared to TT/TC genotypes, whereas no such correlation was observed with breast cancer cases. We observed a strong linkage disequilibrium (LD) among rs2229611 and other disease causing G6PC1 variants (|D'|=1, r(2)=1)...
May 11, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28497716/polyglucosan-bodies-in-placental-extravillious-trophoblast-for-the-diagnosis-of-fatal-perinatal-neuromuscular-type-glycogen-storage-disease-type-iv
#14
Weiming Yu, Marie-Anne Brundler, James R Wright
The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV. We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff (PAS)-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease IV with extensive involvement of skeletal muscle, heart, and liver...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28482395/-one-case-of-x-linked-recessive-glycogen-storage-disease-type-ixa
#15
H M Guo, B X Zheng, M Li
No abstract text is available yet for this article.
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28458779/genetic-disorders-in-beef-cattle-a-review
#16
REVIEW
Aleksandra Ciepłoch, Karolina Rutkowska, Jolanta Oprządek, Ewa Poławska
The main purpose of present review is to describe and organize autosomal recessive disorders (arachnomelia, syndactylism, osteopetrosis, dwarfism, crooked tail syndrome, muscular hyperplasia, glycogen storage disease, protoporphyria), which occur among beef cattle, and methods that can be applied to detect these defects. Prevalence of adverse alleles in beef breeds happens due to human activity-selections of favorable features, e.g. developed muscle tissue. Unfortunately, carriers of autosomal recessive diseases are often characterized by these attributes...
2017: Genes & Genomics
https://www.readbyqxmd.com/read/28453664/glycogen-synthesis-in-glycogenin-1-deficient-patients-a-role-for-glycogenin-2-in-muscle
#17
Thomas O Krag, Cristina Ruiz Ruiz, John Vissing
Context: Glycogen storage disease type XV (GSD XV) is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. Nonetheless, glycogen is present in muscles of glycogenin 1 deficient patients, suggesting an alternative for glycogen build-up. A likely candidate is glycogenin 2, an isoform expressed in liver and heart, but not in healthy skeletal muscle. Objective: We wanted to investigate the formation of glycogen and changes in glycogen metabolism in patients with GSD XV...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28400468/the-diagnostic-value-of-hyperammonaemia-induced-by-the-non-ischaemic-forearm-exercise-test
#18
Jean-Yves Hogrel, Jorien B E Janssen, Isabelle Ledoux, Gwenn Ollivier, Anthony Béhin, Tanya Stojkovic, Bruno Eymard, Nicol C Voermans, Pascal Laforet
AIMS: The non-ischaemic forearm exercise test (NIFET) is used as a diagnostic tool for the screening of patients with exercise intolerance and for the diagnosis of various metabolic muscle disorders. The production of lactate and ammonia are generally analysed to guide the diagnosis. The aim of this retrospective study was to determine the level of ammonia rise, which can be suggestive of a muscle disease. METHODS: This retrospective study involved 1440 patients who underwent NIFET...
April 11, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28397058/clinical-and-biochemical-heterogeneity-between-patients-with-glycogen-storage-disease-type-ia-the-added-value-of-cusum-for-metabolic-control
#19
Fabian Peeks, Thomas A H Steunenberg, Foekje de Boer, M Estela Rubio-Gozalbo, Monique Williams, Rob Burghard, Fabienne Rajas, Maaike H Oosterveer, David A Weinstein, Terry G J Derks
OBJECTIVE: To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase). STUDY DESIGN: Descriptive retrospective study of longitudinal clinical and biochemical data and long-term complications in 20 GSD Ia patients. We included 11 patients with homozygous G6PC mutations and siblings from four families carrying identical G6PC genotypes...
April 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28389590/cutting-edge-increased-autoimmunity-risk-in-glycogen-storage-disease-type-1b-is-associated-with-a-reduced-engagement-of-glycolysis-in-t-cells-and-an-impaired-regulatory-t-cell-function
#20
Daniela Melis, Fortunata Carbone, Giorgia Minopoli, Claudia La Rocca, Francesco Perna, Veronica De Rosa, Mario Galgani, Generoso Andria, Giancarlo Parenti, Giuseppe Matarese
Glycogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucose-6-phosphate transporter and characterized by altered glycogen/glucose homeostasis. A higher frequency of autoimmune diseases has been observed in GSD-1b patients, but the molecular determinants leading to this phenomenon remain unknown. To address this question, we investigated the effect of glucose-6-phosphate transporter mutation on immune cell homeostasis and CD4(+) T cell functions. In GSD-1b subjects, we found lymphopenia and a reduced capacity of T cells to engage glycolysis upon TCR stimulation...
May 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
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