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Most cited papers in Lysosomal Storage Disorders Research

Lysosomal Storage Disorders Research

What are the most cited papers in Lysosomal Storage Disorders Research?

The most cited paper in Lysosomal Storage Disorders Research is "Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease" (Valentina Cappello, Laura Marchetti, Paola Parlanti et al., 2016), with 13,289 citations. Next come "Parkinson's disease" (3,905) and "Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice" (3,905).

Showing 50 of 100 papers. Every paper with more than 791 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease Valentina Cappello, Laura Marchetti, Paola Parlanti et al. · Scientific Reports Open access 11 Nov 2016 13,289
2 Parkinson's disease Bastiaan R. Bloem, Michael S. Okun, Christine Klein · The Lancet Open access 11 Apr 2021 3,905
3 Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice Taichi Hara, Kenji D. Nakamura, Makoto Matsui et al. · Nature 19 Apr 2006 3,905
4 TFEB Links Autophagy to Lysosomal Biogenesis Carmine Settembre, Chiara Di Malta, Vinicia Assunta Polito et al. · Science Open access 26 May 2011 3,389
5 Mechanisms of mitophagy Richard J. Youle, Derek P. Narendra · Nature Reviews Molecular Cell Biology ReviewOpen access 22 Dec 2010 3,286
6 How to Interpret LC3 Immunoblotting Noboru Mizushima, Tamotsu Yoshimori · Autophagy Open access 26 Nov 2007 2,643
7 Prevalence of Lysosomal Storage Disorders Peter J. Meikle · JAMA 20 Jan 1999 2,215
8 Chloroquine inhibits autophagic flux by decreasing autophagosome-lysosome fusion Mario Mauthe, Idil Orhon, Cecilia Rocchi et al. · Autophagy Open access 26 Jun 2018 2,198
9 Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease E. Sidransky et al. · New England Journal of Medicine Open access 21 Oct 2009 2,179
10 A Drosophila model of Parkinson's disease Mel Β. Feany, Welcome W. Bender · Nature Mar 2000 2,156
11 Lithium amplifies agonist-dependent phosphatidylinositol responses in brain and salivary glands Michael John Berridge, C. Peter Downes, Michael R. Hanley · Biochemical Journal Open access 15 Sep 1982 2,148
12 Glycosyltransferases: Structures, Functions, and Mechanisms Luke L. Lairson, Bernard Henrissat, G.J. Davies et al. · Annual Review of Biochemistry Review 9 Feb 2007 2,119
13 The role of autophagy in neurodegenerative disease Ralph A. Nixon · Nature Medicine Aug 2013 2,094
14 Non-motor features of Parkinson disease Anthony H.V. Schapira, К. Ray Chaudhuri, Peter G. Jenner · Nature reviews. Neuroscience Review 8 Jun 2017 2,084
15 PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy Noriyuki Matsuda, Shigeto Sato, Kahori Shiba et al. · The Journal of Cell Biology Open access 19 Apr 2010 1,986
16 Changes in the levels of inositol phosphates after agonist-dependent hydrolysis of membrane phosphoinositides Michael John Berridge, REX M. C. DAWSON, C. Peter Downes et al. · Biochemical Journal Open access 15 May 1983 1,968
17 Autophagosome formation from membrane compartments enriched in phosphatidylinositol 3-phosphate and dynamically connected to the endoplasmic reticulum Elizabeth Axe, Simon A. Walker, Maria Manifava et al. · The Journal of Cell Biology Open access 25 Aug 2008 1,876
18 CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis Julian David Gillmore et al. · New England Journal of Medicine Open access 26 Jun 2021 1,751
19 Müller cells in the healthy and diseased retina Andreas Bringmann, Thomas Pannicke, Jens Grosche et al. · Progress in Retinal and Eye Research Jul 2006 1,748
20 Regulation of Mammalian Autophagy in Physiology and Pathophysiology Brinda Ravikumar, Sovan Sarkar, J. Eric Davies et al. · Physiological Reviews ReviewOpen access Oct 2010 1,746
21 Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin Jeehye Park, Sung Bae Lee, Sungkyu Lee et al. · Nature 3 May 2006 1,731
22 Signals from the lysosome: a control centre for cellular clearance and energy metabolism Carmine Settembre, Alessandro Fraldi, Diego Luis Medina et al. · Nature Reviews Molecular Cell Biology ReviewOpen access 23 Apr 2013 1,731
23 The Biogenesis of Lysosomes Stuart A. Kornfeld, Ira Mellman · Annual Review of Cell Biology Nov 1989 1,592
24 Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease Christine M. Eng, Nathalie Guffon, William Ross Wilcox et al. · New England Journal of Medicine Open access 5 Jul 2001 1,559
25 Effect of Aerosolized Recombinant Human DNase on Exacerbations of Respiratory Symptoms and on Pulmonary Function in Patients with Cystic Fibrosis Henry J. Fuchs, Drucy Borowitz, David Høyrup Christiansen et al. · New England Journal of Medicine Open access 8 Sep 1994 1,543
26 Lysosomes as dynamic regulators of cell and organismal homeostasis Andrea Ballabio, Juan S. Bonifacino · Nature Reviews Molecular Cell Biology Review 25 Nov 2019 1,496
27 LC3 conjugation system in mammalian autophagy Isei Tanida, Takashi Ueno, Eiki Kominami · The International Journal of Biochemistry & Cell Biology Open access 17 Aug 2004 1,487
28 Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis Eugene D. Carstea et al. · Science 11 Jul 1997 1,482
29 Autophagy modulation as a potential therapeutic target for diverse diseases David Chaim Rubinsztein, Patrice Codogno, Beth Levine · Nature Reviews Drug Discovery ReviewOpen access 31 Aug 2012 1,454
30 Ubiquitin-Dependent Sorting into the Multivesicular Body Pathway Requires the Function of a Conserved Endosomal Protein Sorting Complex, ESCRT-I David J. Katzmann, Markus Babst, Scott D. Emr · Cell Open access Jul 2001 1,444
31 Protein glycosylation: nature, distribution, enzymatic formation, and disease implications of glycopeptide bonds Robert G. Spiro · Glycobiology Apr 2002 1,424
32 Mitochondrial membrane potential regulates PINK1 import and proteolytic destabilization by PARL Seok Min Jin, Michael Lazarou, Chunxin Wang et al. · The Journal of Cell Biology Open access 29 Nov 2010 1,394
33 Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies Joseph R. Mazzulli, You-Hai Xu, Ying Sun et al. · Cell Open access 27 Jun 2011 1,360
34 COPII: A membrane coat formed by Sec proteins that drive vesicle budding from the endoplasmic reticulum Charles K. Barlowe · Cell 17 Jun 1994 1,343
35 The Hairpin-type Tail-Anchored SNARE Syntaxin 17 Targets to Autophagosomes for Fusion with Endosomes/Lysosomes Eisuke Itakura, Chieko Kishi‐Itakura, Noboru Mizushima · Cell Open access Dec 2012 1,325
36 One step at a time: endoplasmic reticulum-associated degradation Shruthi Sridhar Vembar, Jeffrey L. Brodsky · Nature Reviews Molecular Cell Biology ReviewOpen access 12 Nov 2008 1,316
37 Enzyme Replacement Therapy in Fabry Disease Raphael Schiffmann, Jeffrey B. Kopp, Howard A. Austin et al. · JAMA 6 Jun 2001 1,312
38 Role of cholesterol and lipid organization in disease Frederick R. Maxfield, Ira A. Tabas · Nature 30 Nov 2005 1,304
39 Lysosomes and autophagy in cell death control Guido Kroemer, Marja Jäättelä · Nature reviews. Cancer ReviewOpen access 20 Oct 2005 1,296
40 Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease Norman W. Barton, Roscoe O. Brady, James M. Dambrosia et al. · New England Journal of Medicine Open access 23 May 1991 1,273
41 Niemann-Pick disease type C Marie Therese Vanier · Orphanet Journal of Rare Diseases Open access 3 Jun 2010 1,242
42 Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations Ju‐Hyun Lee, Wai Haung Yu, Asok R. Kumar et al. · Cell Open access Jun 2010 1,233
43 Fabry disease Dominique Paul Germain · Orphanet Journal of Rare Diseases Open access 2010 1,210
44 The synthesis of complex carbohydrates by multiglycosyltransferase systems and their potential function in intercellular adhesion Saul Roseman · Chemistry and Physics of Lipids Oct 1970 1,209
45 Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase Alfredo Ramı́rez, André Heimbach, Jan Gründemann et al. · Nature Genetics 10 Sep 2006 1,207
46 Phospholipase A2Enzymes: Physical Structure, Biological Function, Disease Implication, Chemical Inhibition, and Therapeutic Intervention Edward A. Dennis, Jian Cao, Yuan‐Hao Hsu et al. · Chemical Reviews ReviewOpen access 12 Sep 2011 1,193
47 Localization of low molecular weight GTP binding proteins to exocytic and endocytic compartments Philippe Chavrier, Robert G. Parton, Hans Peter Hauri et al. · Cell Open access Jul 1990 1,177
48 Epidemiology of mucopolysaccharidoses Shaukat Ali Khan, Hira Peracha, Diana Ballhausen et al. · Molecular Genetics and Metabolism Open access 29 May 2017 1,112
49 Mannose 6-phosphate receptors: new twists in the tale Pradipta Ghosh, Nancy M. Dahms, Stuart A. Kornfeld · Nature Reviews Molecular Cell Biology Review 28 Feb 2003 1,102
50 The Atg16L Complex Specifies the Site of LC3 Lipidation for Membrane Biogenesis in Autophagy Naonobu Fujita, Takashi Itoh, Hiroko Omori et al. · Molecular Biology of the Cell Open access 5 Mar 2008 1,092

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.