Author

R. Jobling

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Cell Biology· 1

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Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:genetic perturbation / CRISPR· 1 Organism:human· 1 Assay:imaging· 1 Assay:metabolomics· 1 Assay:proteomics· 1

Frequent Co-Authors

A. Fasano· 1 shared A. M. Lozano· 1 shared C. Burns· 1 shared C. S. Asensio· 1 shared C. Sepulveda· 1 shared C. ten Brink· 1 shared D. Chitayat· 1 shared E. F. Griffin· 1 shared

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2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperCell Biology

A. Fasano

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1 paper

Recent·Most cited

Cell BiologybioRxivPreprintDec 18, 2019

VPS41 recessive mutation causes ataxia and dystonia with retinal dystrophy and mental retardation by inhibiting HOPS function and mTORC1 signaling

R. E. N. van der Welle, R. Jobling, C. Burns…·J. Klumperman

This paper identifies VPS41 mutations causing neurodegenerative disease by disrupting HOPS function and mTORC1 signaling, leading to lysosomal dysfunction and impaired autophagy.

DOI 10.1101/2019.12.18.867333

humanproteomics

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