Literature DB >> 31787497

Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.

Benjamin L Farah1, Paul M Yen2, Dwight D Koeberl3.   

Abstract

The glycogen storage diseases are a group of inherited metabolic disorders that are characterized by specific enzymatic defects involving the synthesis or degradation of glycogen. Each disorder presents with a set of symptoms that are due to the underlying enzyme deficiency and the particular tissues that are affected. Autophagy is a process by which cells degrade and recycle unneeded or damaged intracellular components such as lipids, glycogen, and damaged mitochondria. Recent studies showed that several of the glycogen storage disorders have abnormal autophagy which can disturb normal cellular metabolism and/or mitochondrial function. Here, we provide a clinical overview of the glycogen storage disorders, a brief description of autophagy, and the known links between specific glycogen storage disorders and autophagy.
Copyright © 2019 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Autophagy; Cori disease; Glycogen Storage Disease (GSD); Glycogenosis; Lafora disease; Metabolism; Pompe disease; Signaling; von Gierke disease

Mesh:

Substances:

Year:  2019        PMID: 31787497      PMCID: PMC7836271          DOI: 10.1016/j.ymgme.2019.11.005

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  128 in total

1.  Outcome of living donor liver transplantation for glycogen storage disease.

Authors:  P-P Liu; V H de Villa; Y-S Chen; C-C Wang; S-H Wang; Y-C Chiang; B Jawan; H-K Cheung; Y-F Cheng; T-L Huang; H-L Eng; F-R Chuang; C-L Chen
Journal:  Transplant Proc       Date:  2003-02       Impact factor: 1.066

Review 2.  Historical landmarks of autophagy research.

Authors:  Yoshinori Ohsumi
Journal:  Cell Res       Date:  2013-12-24       Impact factor: 25.617

Review 3.  The LIR motif - crucial for selective autophagy.

Authors:  Åsa Birna Birgisdottir; Trond Lamark; Terje Johansen
Journal:  J Cell Sci       Date:  2013-08-01       Impact factor: 5.285

4.  The GCN2-ATF4 pathway is critical for tumour cell survival and proliferation in response to nutrient deprivation.

Authors:  Jiangbin Ye; Monika Kumanova; Lori S Hart; Kelly Sloane; Haiyan Zhang; Diego N De Panis; Ekaterina Bobrovnikova-Marjon; J Alan Diehl; David Ron; Constantinos Koumenis
Journal:  EMBO J       Date:  2010-05-14       Impact factor: 11.598

5.  Abnormal chaperone-mediated autophagy (CMA) in cardiomyocytes of a boy with Danon disease.

Authors:  Anna Fidziańska; Ewa Walczak; Michał Walski
Journal:  Folia Neuropathol       Date:  2007       Impact factor: 2.038

6.  Lysosomal glycogen storage disease with normal acid maltase.

Authors:  M J Danon; S J Oh; S DiMauro; J R Manaligod; A Eastwood; S Naidu; L H Schliselfeld
Journal:  Neurology       Date:  1981-01       Impact factor: 9.910

7.  Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.

Authors:  M G Ausems; J Verbiest; M P Hermans; M A Kroos; F A Beemer; J H Wokke; L A Sandkuijl; A J Reuser; A T van der Ploeg
Journal:  Eur J Hum Genet       Date:  1999-09       Impact factor: 4.246

Review 8.  Emerging themes in bacterial autophagy.

Authors:  Matthew T Sorbara; Stephen E Girardin
Journal:  Curr Opin Microbiol       Date:  2014-12-10       Impact factor: 7.934

9.  Isolation and characterization of autophagy-defective mutants of Saccharomyces cerevisiae.

Authors:  M Tsukada; Y Ohsumi
Journal:  FEBS Lett       Date:  1993-10-25       Impact factor: 4.124

Review 10.  Essential versus accessory aspects of cell death: recommendations of the NCCD 2015.

Authors:  L Galluzzi; J M Bravo-San Pedro; I Vitale; S A Aaronson; J M Abrams; D Adam; E S Alnemri; L Altucci; D Andrews; M Annicchiarico-Petruzzelli; E H Baehrecke; N G Bazan; M J Bertrand; K Bianchi; M V Blagosklonny; K Blomgren; C Borner; D E Bredesen; C Brenner; M Campanella; E Candi; F Cecconi; F K Chan; N S Chandel; E H Cheng; J E Chipuk; J A Cidlowski; A Ciechanover; T M Dawson; V L Dawson; V De Laurenzi; R De Maria; K-M Debatin; N Di Daniele; V M Dixit; B D Dynlacht; W S El-Deiry; G M Fimia; R A Flavell; S Fulda; C Garrido; M-L Gougeon; D R Green; H Gronemeyer; G Hajnoczky; J M Hardwick; M O Hengartner; H Ichijo; B Joseph; P J Jost; T Kaufmann; O Kepp; D J Klionsky; R A Knight; S Kumar; J J Lemasters; B Levine; A Linkermann; S A Lipton; R A Lockshin; C López-Otín; E Lugli; F Madeo; W Malorni; J-C Marine; S J Martin; J-C Martinou; J P Medema; P Meier; S Melino; N Mizushima; U Moll; C Muñoz-Pinedo; G Nuñez; A Oberst; T Panaretakis; J M Penninger; M E Peter; M Piacentini; P Pinton; J H Prehn; H Puthalakath; G A Rabinovich; K S Ravichandran; R Rizzuto; C M Rodrigues; D C Rubinsztein; T Rudel; Y Shi; H-U Simon; B R Stockwell; G Szabadkai; S W Tait; H L Tang; N Tavernarakis; Y Tsujimoto; T Vanden Berghe; P Vandenabeele; A Villunger; E F Wagner; H Walczak; E White; W G Wood; J Yuan; Z Zakeri; B Zhivotovsky; G Melino; G Kroemer
Journal:  Cell Death Differ       Date:  2014-09-19       Impact factor: 15.828

View more
  2 in total

1.  A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Authors:  Michela Semeraro; Elisa Sacchetti; Federica Deodato; Turgay Coşkun; Incilay Lay; Giulio Catesini; Giorgia Olivieri; Cristiano Rizzo; Sara Boenzi; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2021-01-09       Impact factor: 4.123

2.  The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Authors:  Celine Deneubourg; Mauricio Ramm; Luke J Smith; Olga Baron; Kritarth Singh; Susan C Byrne; Michael R Duchen; Mathias Gautel; Eeva-Liisa Eskelinen; Manolis Fanto; Heinz Jungbluth
Journal:  Autophagy       Date:  2021-08-19       Impact factor: 13.391

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.