Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases

Cell Death & Disease
Ida AnnunziataAlessandra d'Azzo

Abstract

Lysosomal storage diseases (LSDs) comprise a large group of disorders of catabolism, mostly due to deficiency of a single glycan-cleaving hydrolase. The consequent endo-lysosomal accumulation of undigested or partially digested substrates in cells of virtually all organs, including the nervous system, is diagnostic of these diseases and underlies pathogenesis. A subgroup of LSDs, the glycosphingolipidoses, are caused by deficiency of glycosidases that process/degrade sphingolipids and glycosphingolipids (GSLs). GSLs are among the lipid constituents of mammalian membranes, where they orderly distribute and, together with a plethora of membrane proteins, contribute to the formation of discrete membrane microdomains or lipid rafts. The composition of intracellular membranes enclosing organelles reflects that at the plasma membrane (PM). Organelles have the tendencies to tether to one another and to the PM at specific membrane contact sites that, owing to their lipid and protein content, resemble PM lipid rafts. The focus of this review is on the MAMs, mitochondria associated ER membranes, sites of juxtaposition between ER and mitochondria that function as biological hubs for the exchange of molecules and ions, and control the func...Continue Reading

References

Dec 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·D R Voelker
Jan 1, 1996·Free Radical Biology & Medicine·D Yin
Nov 25, 1997·Biochimica Et Biophysica Acta·D E VanceZ Cui
Aug 12, 2000·The Journal of Biological Chemistry·S J Stone, J E Vance
Jun 20, 2001·Nature Reviews. Molecular Cell Biology·K Simons, D Toomre
Jul 17, 2001·Current Opinion in Cell Biology·E Ikonen
Oct 9, 2002·EMBO Reports·Gia K VoeltzTom A Rapoport
Oct 11, 2002·Neurochemical Research·Robert W Ledeen, Gusheng Wu
Jan 18, 2003·Biochimica Et Biophysica Acta·Florence Malisan, Roberto Testi
Mar 27, 2003·Nature Neuroscience·Luigi PuglielliDora M Kovacs
Jun 5, 2003·The Journal of Biological Chemistry·Dominic I JamesJean-Claude Martinou
Jun 14, 2003·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Konrad Sandhoff, Thomas Kolter
May 25, 1959·The Journal of Biophysical and Biochemical Cytology·D E COPELAND, A J DALTON
Oct 30, 2004·Glycoconjugate Journal·Annick Raas-RothschildAnthony H Futerman
Jun 11, 2005·Cell Death and Differentiation·T GarofaloM Sorice
Jun 28, 2005·Progress in Lipid Research·Jean E Vance, Rineke Steenbergen
Jan 7, 2006·Cell Death and Differentiation·A d'AzzoR Sano
May 20, 2006·Biochemical Society Transactions·E Kvam, D S Goldfarb
Jun 30, 2006·Current Opinion in Cell Biology·Tim Levine, Chris Loewen
Aug 12, 2006·Canadian Journal of Physiology and Pharmacology·Robert W Ledeen, Gusheng Wu
Sep 20, 2006·The Journal of Cell Biology·György CsordásGyörgy Hajnóczky
Dec 21, 2006·The Journal of Cell Biology·György SzabadkaiRosario Rizzuto
Jun 15, 2007·Nature Reviews. Molecular Cell Biology·David Ron, Peter Walter
Jul 27, 2007·The Journal of Biological Chemistry·Wayne R RiekhofDennis R Voelker
Nov 27, 2007·Cellular and Molecular Life Sciences : CMLS·M Schröder

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Citations

Mar 20, 2018·Cell Death & Disease·Paolo Pinton
Jul 1, 2018·Journal of Neurochemistry·Sara GrassiAlessandro Prinetti
Aug 26, 2018·Journal of Neurochemistry·Mary C McKennaGustavo C Ferreira
Mar 27, 2019·Cells·John G Geisler
Apr 19, 2019·Journal of the American Heart Association·Carmen De MiguelSantiago Cuevas
Sep 19, 2018·Proceedings of the National Academy of Sciences of the United States of America·Brian G RashPasko Rakic
Oct 3, 2018·Nature Reviews. Disease Primers·Frances M PlattCynthia J Tifft
Oct 1, 2019·Current Pharmaceutical Design·Maria R GigliobiancoRoberta Censi
Sep 10, 2020·Frontiers in Cell and Developmental Biology·Hao LiuDu Feng
Aug 9, 2020·Frontiers in Cell and Developmental Biology·Ming YangLin Sun
Jan 18, 2019·Journal of Cell Science·André R A Marques, Paul Saftig
Jan 19, 2021·EMBO Molecular Medicine·Giancarlo ParentiAndrea Ballabio
Oct 30, 2020·Frontiers in Neuroscience·Simonetta SipioneVaibhavi Kadam
Feb 20, 2021·American Journal of Physiology. Heart and Circulatory Physiology·Rebecca L ShawSteven S Segal
Feb 14, 2021·Cells·Sara Marmolejo-Martínez-ArteseroDavid Romeo-Guitart
Feb 23, 2021·Frontiers in Cell and Developmental Biology·Maurizio SoriceVincenzo Mattei
Mar 13, 2021·Seminars in Cell & Developmental Biology·Sonam Parakh, Julie D Atkin
Mar 23, 2021·Journal of Neuroimmune Pharmacology : the Official Journal of the Society on NeuroImmune Pharmacology·Koffi L LakpaJonathan D Geiger
Apr 6, 2021·Frontiers in Cell and Developmental Biology·Rosa VonaPaola Matarrese
Apr 13, 2021·Frontiers in Endocrinology·Ugochukwu Kelvin IhenachoR Blake Hill
Apr 27, 2021·Frontiers in Cell and Developmental Biology·Simone PatergnaniMariusz R Wieckowski
Jul 18, 2021·Prostaglandins & Other Lipid Mediators·K MahalakshmiR Manikandan
Nov 11, 2021·Glycoconjugate Journal·Kerri-Lee WallomFrances M Platt

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Methods Mentioned

BETA
protein folding
acylation
GTPases

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