https://doi.org/10.1038/s41586-022-05652-7
J
Jlenia Monfregola
Claim or correct this author profile
Claim this profile or suggest corrections to the name, affiliation, bio, photo, or paper titles. Approved changes appear as verified CitedEvidence overlays.
51
Papers
2.4K
Citations
23
h-index
27
i10-index
Jlenia Monfregola is an academic researcher from Telethon Institute Of Genetics And Medicine. The author has contributed to research in topics: Cellular transport and secretion & Autophagy in Disease and Therapy & Lysosomal Storage Disorders Research. The author has an h-index of 23, co-authored 44 publications.
ORCID: 0000-0001-7408-4428Papers by this author
worksStructure of the lysosomal mTORC1–TFEB–Rag–Ragulator megacomplex
2023 · Nature · 166 citations
Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis
2015 · EMBO Molecular Medicine · 92 citations
https://doi.org/10.15252/emmm.201404223
Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders
2021 · Nature Communications · 31 citations
https://doi.org/10.1038/s41467-021-23903-5
MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions
2007 · BMC Medical Genetics · 26 citations
https://doi.org/10.1186/1471-2350-8-25
Differential dysregulation of granule subsets in WASH-deficient neutrophil leukocytes resulting in inflammation
2022 · Nature Communications · 11 citations
https://doi.org/10.1038/s41467-022-33230-y
Research topics
topicsChat about Author
Papers
Chat
Click to start Chat