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Literature DB >> 17915576

Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.

S Lucchiari¹, D Santoro, S Pagliarani, G P Comi.

Abstract

Deficiency of debrancher enzyme causes Glycogen Storage Disease (GSD) type III, an autosomal recessive disorder, characterized by tissue accumulation of abnormally structured glycogen. This report reviews current clinical and molecular knowledge about this disorder and describes the variability at phenotype and genotype levels of a large group of Italian GSDIII patients.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2007 PMID： 17915576 PMCID： PMC2949315

Source DB: PubMed Journal: Acta Myol ISSN： 1128-2460

11 in total

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Authors: G M Hadjigeorgiou; G P Comi; A Bordoni; J Shen; Y T Chen; S Salani; A Toscano; F Fortunato; S Lucchiari; N Bresolin; C Rodolico; M G Piscaglia; L Franceschina; A Papadimitriou; G Scarlato
Journal: J Inherit Metab Dis Date: 1999-08 Impact factor: 4.982

10. Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.

Authors: Stefano Campanaro; Chiara Romualdi; Marina Fanin; Barbara Celegato; Beniamina Pacchioni; Silvia Trevisan; Paolo Laveder; Cristiano De Pittà; Elena Pegoraro; Yukiko K Hayashi; Giorgio Valle; Corrado Angelini; Gerolamo Lanfranchi
Journal: Hum Mol Genet Date: 2002-12-15 Impact factor: 6.150

15 in total

Review 1. Glycogen metabolism and glycogen storage disorders.

Authors: Shibani Kanungo; Kimberly Wells; Taylor Tribett; Areeg El-Gharbawy
Journal: Ann Transl Med Date: 2018-12

2. Correction of glycogen storage disease type III with rapamycin in a canine model.

Authors: Haiqing Yi; Elizabeth D Brooks; Beth L Thurberg; John C Fyfe; Priya S Kishnani; Baodong Sun
Journal: J Mol Med (Berl) Date: 2014-02-08 Impact factor: 4.599

3. Crystal structures of glycogen-debranching enzyme mutants in complex with oligosaccharides.

Authors: Miaomiao Shen; Xiaoxin Gong; Song Xiang
Journal: Acta Crystallogr F Struct Biol Commun Date: 2021-10-29 Impact factor: 1.056

4. Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.

Authors: Patrice Vidal; Serena Pagliarani; Pasqualina Colella; Helena Costa Verdera; Louisa Jauze; Monika Gjorgjieva; Francesco Puzzo; Solenne Marmier; Fanny Collaud; Marcelo Simon Sola; Severine Charles; Sabrina Lucchiari; Laetitia van Wittenberghe; Alban Vignaud; Bernard Gjata; Isabelle Richard; Pascal Laforet; Edoardo Malfatti; Gilles Mithieux; Fabienne Rajas; Giacomo Pietro Comi; Giuseppe Ronzitti; Federico Mingozzi
Journal: Mol Ther Date: 2017-12-28 Impact factor: 11.454

5. Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.

Authors: Alan Cheng; Mei Zhang; Minoru Okubo; Kaoru Omichi; Alan R Saltiel
Journal: Hum Mol Genet Date: 2009-03-19 Impact factor: 6.150