Leaderboards/Lysosomal Storage Disorders Research

Lysosomal Storage Disorders Research

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
Jasmin Galper
The University of Sydney
2
Jiyuan Zhang
The University of Texas Southwestern Medical Center
3
Connor Lewis
Virginia Commonwealth University
4
Zhong Yan Gan
The University of Melbourne
5
Nick Huang
New York Proton Center
6
Nouf N. Laqtom
Stanford University
7
Alex T. Ritter
Emergency University
8
Fenglei Jian
Huazhong University of Science and Technology
9
Pascale Baden
German Center for Neurodegenerative Diseases
10
Majdolen Istaiti
Shaare Zedek Medical Center

Papers

1
Rab4A-directed endosome traffic shapes pro-inflammatory mitochondrial metabolism in T cells via mitophagy, CD98 expression, and kynurenine-sensitive mTOR activation
Nature Communications|2024
72 cit.
2
Prediction of motor and non-motor Parkinson’s disease symptoms using serum lipidomics and machine learning: a 2-year study
npj Parkinson s Disease|2024
13 cit.
3
Interaction of PINK1 with nucleotides and kinetin
Science Advances|2024
11 cit.
4
Reassessing kinetin’s effect on PINK1 and mitophagy
Autophagy|2024
7 cit.
5
Publication in Internal Medicine Journal (2025) [1 citation, W4414544340]
Internal Medicine Journal|2025
1 cit.
6
Publication in American Journal of Hematology (2026) [1 citation, W7130372974]
American Journal of Hematology|2026
1 cit.
7
ABCA5 lipid transporter is associated with a reduced risk of Parkinson’s disease
Neural Regeneration Research|2025
0 cit.
8
Publication in mHealth (2025) [W4414136916]
mHealth|2025
0 cit.

Emerging Leaders

Drafting the new consensus

Researchers

1
Muriel Mari
Aarhus University
2
Ashley Thelen
Cape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa
3
Nicolas Dzamko
The University of Sydney
4
Ping Yu
Harbin Institute of Technology
5
Elisa Majounie
Illumina (United States)
6
Francesca Tonelli
University of Pavia
7
Monther Abu-Remaileh
Neurosciences Institute
8
Jordi Díaz‐Manera
Newcastle upon Tyne Hospitals NHS Foundation Trust
9
Emily R. Eden
Institute of Ophthalmology
10
Mihalis S. Kariolis
Denali Therapeutics (United States)

Papers

1
Lipid pathway dysfunction is prevalent in patients with Parkinson’s disease
Brain|2022
144 cit.
2
CLN3 is required for the clearance of glycerophosphodiesters from lysosomes
Nature|2022
140 cit.
3
CD98hc is a target for brain delivery of biotherapeutics
Nature Communications|2023
88 cit.
4
The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase
Science|2023
78 cit.
5
Golgi-IP, a tool for multimodal analysis of Golgi molecular content
Proceedings of the National Academy of Sciences|2023
67 cit.
6
An SPNS1-dependent lysosomal lipid transport pathway that enables cell survival under choline limitation
Science Advances|2023
46 cit.
7
Effect of LRRK2 protein and activity on stimulated cytokines in human monocytes and macrophages
npj Parkinson s Disease|2022
44 cit.
8
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Journal of Neurology Neurosurgery & Psychiatry|2022
41 cit.
9
Evaluation of plasma levels of NFL, GFAP, UCHL1 and tau as Parkinson's disease biomarkers using multiplexed single molecule counting
Scientific Reports|2023
39 cit.
10
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations
Cell Death and Disease|2023
39 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
Mauro Gemmi
Piaggio (Italy)
2
Robert J. Desnick
Icahn School of Medicine at Mount Sinai
3
Noboru Mizushima
The University of Tokyo
4
Johannes M. F. G. Aerts
Leiden University Medical Center
5
Konrad Sandhoff
University of Bonn
6
Andrea Ballabio
Baylor College of Medicine
7
Ellen Sidransky
National Institutes of Health
8
Stuart Kornfeld
Washington University in St. Louis
9
Scott D. Emr
Cornell University
10
Gregory A. Grabowski
Cincinnati Children's Hospital Medical Center

Papers

1
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease
Scientific Reports|2016
13.3k cit.
2
Autophagy fights disease through cellular self-digestion
Nature|2008
6.4k cit.
3
Methods in Mammalian Autophagy Research
Cell|2010
4.5k cit.
4
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
Nature|2006
3.8k cit.
5
TFEB Links Autophagy to Lysosomal Biogenesis
Science|2011
3.3k cit.
6
The role of autophagy during the early neonatal starvation period
Nature|2004
2.8k cit.
7
A Gene Network Regulating Lysosomal Biogenesis and Function
Science|2009
2.5k cit.
8
In Vivo Analysis of Autophagy in Response to Nutrient Starvation Using Transgenic Mice Expressing a Fluorescent Autophagosome Marker
Molecular Biology of the Cell|2003
2.3k cit.
9
Nutrient-dependent mTORC1 Association with the ULK1–Atg13–FIP200 Complex Required for Autophagy
Molecular Biology of the Cell|2009
2k cit.
10
A lysosome‐to‐nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
The EMBO Journal|2012
1.9k cit.

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