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2021 2
2022 64
2023 96
2024 21

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172 results

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Page 1
Genetics and Pathogenesis of Parkinson's Syndrome.
Ye H, Robak LA, Yu M, Cykowski M, Shulman JM. Ye H, et al. Annu Rev Pathol. 2023 Jan 24;18:95-121. doi: 10.1146/annurev-pathmechdis-031521-034145. Epub 2022 Sep 13. Annu Rev Pathol. 2023. PMID: 36100231 Free PMC article. Review.
Parkinson's disease - genetic cause.
Cherian A, K P D, Vijayaraghavan A. Cherian A, et al. Curr Opin Neurol. 2023 Aug 1;36(4):292-301. doi: 10.1097/WCO.0000000000001167. Epub 2023 May 24. Curr Opin Neurol. 2023. PMID: 37366140 Review.
RECENT FINDINGS: Mutations in autosomal dominant genes (e.g. SNCA, LRRK2, VPS35) or autosomal recessive genes (e.g. PRKN, PINK1, DJ-1) can cause genetic Parkinson's disease. ...
RECENT FINDINGS: Mutations in autosomal dominant genes (e.g. SNCA, LRRK2, VPS35) or autosomal recessive genes (e.g. PRKN, PINK1, DJ-1 …
Rab29-dependent asymmetrical activation of leucine-rich repeat kinase 2.
Zhu H, Tonelli F, Turk M, Prescott A, Alessi DR, Sun J. Zhu H, et al. Science. 2023 Dec 22;382(6677):1404-1411. doi: 10.1126/science.adi9926. Epub 2023 Dec 21. Science. 2023. PMID: 38127736 Free PMC article.
Gain-of-function mutations in LRRK2, which encodes the leucine-rich repeat kinase 2 (LRRK2), are the most common genetic cause of late-onset Parkinson's disease. ...We present cryo-electron microscopy structures of Rab29-LRRK2 …
Gain-of-function mutations in LRRK2, which encodes the leucine-rich repeat kinase 2 (LRRK2) …
Proteome profiling of cerebrospinal fluid reveals biomarker candidates for Parkinson's disease.
Karayel O, Virreira Winter S, Padmanabhan S, Kuras YI, Vu DT, Tuncali I, Merchant K, Wills AM, Scherzer CR, Mann M. Karayel O, et al. Cell Rep Med. 2022 Jun 21;3(6):100661. doi: 10.1016/j.xcrm.2022.100661. Cell Rep Med. 2022. PMID: 35732154 Free PMC article.
Machine learning determines OMD, CD44, VGF, PRL, and MAN2B1 to be altered in PD patients or to significantly correlate with clinical scores. We also uncover signatures of enhanced neuroinflammation in LRRK2 G2019S carriers, as indicated by increased levels of CTSS, PLD4, a …
Machine learning determines OMD, CD44, VGF, PRL, and MAN2B1 to be altered in PD patients or to significantly correlate with clinical scores. …
Preclinical and clinical evaluation of the LRRK2 inhibitor DNL201 for Parkinson's disease.
Jennings D, Huntwork-Rodriguez S, Henry AG, Sasaki JC, Meisner R, Diaz D, Solanoy H, Wang X, Negrou E, Bondar VV, Ghosh R, Maloney MT, Propson NE, Zhu Y, Maciuca RD, Harris L, Kay A, LeWitt P, King TA, Kern D, Ellenbogen A, Goodman I, Siderowf A, Aldred J, Omidvar O, Masoud ST, Davis SS, Arguello A, Estrada AA, de Vicente J, Sweeney ZK, Astarita G, Borin MT, Wong BK, Wong H, Nguyen H, Scearce-Levie K, Ho C, Troyer MD. Jennings D, et al. Sci Transl Med. 2022 Jun 8;14(648):eabj2658. doi: 10.1126/scitranslmed.abj2658. Epub 2022 Jun 8. Sci Transl Med. 2022. PMID: 35675433
Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common genetic risk factors for Parkinson's disease (PD). ...DNL201 is an investigational, first-in-class, CNS-penetrant, selective, ATP-competitive, small-molecule LRRK2 …
Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common genetic risk factors for Par …
LRRK2 Inhibition by BIIB122 in Healthy Participants and Patients with Parkinson's Disease.
Jennings D, Huntwork-Rodriguez S, Vissers MFJM, Daryani VM, Diaz D, Goo MS, Chen JJ, Maciuca R, Fraser K, Mabrouk OS, van de Wetering de Rooij J, Heuberger JAAC, Groeneveld GJ, Borin MT, Cruz-Herranz A, Graham D, Scearce-Levie K, De Vicente J, Henry AG, Chin P, Ho C, Troyer MD. Jennings D, et al. Mov Disord. 2023 Mar;38(3):386-398. doi: 10.1002/mds.29297. Epub 2023 Feb 18. Mov Disord. 2023. PMID: 36807624 Clinical Trial.
BACKGROUND: Leucine-rich repeat kinase 2 (LRRK2) inhibition is a promising therapeutic approach for the treatment of Parkinson's disease (PD). ...CONCLUSIONS: At generally safe and well-tolerated doses, BIIB122 achieved substantial periph …
BACKGROUND: Leucine-rich repeat kinase 2 (LRRK2) inhibition is a promising therapeutic approach fo …
Proteomics of brain, CSF, and plasma identifies molecular signatures for distinguishing sporadic and genetic Alzheimer's disease.
Sung YJ, Yang C, Norton J, Johnson M, Fagan A, Bateman RJ, Perrin RJ, Morris JC, Farlow MR, Chhatwal JP, Schofield PR, Chui H, Wang F, Novotny B, Eteleeb A, Karch C, Schindler SE, Rhinn H, Johnson ECB, Oh HS, Rutledge JE, Dammer EB, Seyfried NT, Wyss-Coray T, Harari O, Cruchaga C. Sung YJ, et al. Sci Transl Med. 2023 Jul 5;15(703):eabq5923. doi: 10.1126/scitranslmed.abq5923. Epub 2023 Jul 5. Sci Transl Med. 2023. PMID: 37406134 Free PMC article.
Enrichment analyses highlighted several pathways, including those implicated in AD (calcineurin and Apo E), Parkinson's disease (alpha-synuclein and LRRK2), and innate immune responses (SHC1, ERK-1, and SPP1). Our findings suggest that combined proteomics across brain tiss …
Enrichment analyses highlighted several pathways, including those implicated in AD (calcineurin and Apo E), Parkinson's disease (alpha-synuc …
ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling.
Hancock-Cerutti W, Wu Z, Xu P, Yadavalli N, Leonzino M, Tharkeshwar AK, Ferguson SM, Shadel GS, De Camilli P. Hancock-Cerutti W, et al. J Cell Biol. 2022 Jul 4;221(7):e202106046. doi: 10.1083/jcb.202106046. Epub 2022 Jun 3. J Cell Biol. 2022. PMID: 35657605 Free PMC article.
In the current study, we demonstrate that depleting VPS13C in HeLa cells causes an accumulation of lysosomes with an altered lipid profile, including an accumulation of di-22:6-BMP, a biomarker of the PD-associated leucine-rich repeat kinase 2 ( …
In the current study, we demonstrate that depleting VPS13C in HeLa cells causes an accumulation of lysosomes with an altered lipid profile, …
A blood-based marker of mitochondrial DNA damage in Parkinson's disease.
Qi R, Sammler E, Gonzalez-Hunt CP, Barraza I, Pena N, Rouanet JP, Naaldijk Y, Goodson S, Fuzzati M, Blandini F, Erickson KI, Weinstein AM, Lutz MW, Kwok JB, Halliday GM, Dzamko N, Padmanabhan S, Alcalay RN, Waters C, Hogarth P, Simuni T, Smith D, Marras C, Tonelli F, Alessi DR, West AB, Shiva S, Hilfiker S, Sanders LH. Qi R, et al. Sci Transl Med. 2023 Aug 30;15(711):eabo1557. doi: 10.1126/scitranslmed.abo1557. Epub 2023 Aug 30. Sci Transl Med. 2023. PMID: 37647388
We found that mtDNA damage was increased in peripheral blood mononuclear cells derived from patients with idiopathic PD and those harboring the PD-associated leucine-rich repeat kinase 2 (LRRK2) G2019S mutation in comparison with age-matc …
We found that mtDNA damage was increased in peripheral blood mononuclear cells derived from patients with idiopathic PD and those harboring …
LRRK2: Genetic mechanisms vs genetic subtypes.
Mata I, Salles P, Cornejo-Olivas M, Saffie P, Ross OA, Reed X, Bandres-Ciga S. Mata I, et al. Handb Clin Neurol. 2023;193:133-154. doi: 10.1016/B978-0-323-85555-6.00018-7. Handb Clin Neurol. 2023. PMID: 36803807 Review.
Patients with LRRK2 pathogenic variants are clinically and pathologically heterogeneous, highlighting the age-related variable penetrance that also characterizes LRRK2-related disease. ...At a functional cellular level, it is likely that pathogenic variants mediate …
Patients with LRRK2 pathogenic variants are clinically and pathologically heterogeneous, highlighting the age-related variable penetr …
172 results