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2019 1
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2023 3
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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
Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson's disease.
Gomes S, Garrido A, Tonelli F, Obiang D, Tolosa E, Martí MJ, Ruiz-Martínez J, Vinagre-Aragón A, Hernandez-Eguiazu H, Croitoru I, Marshall VL, Koenig T, Hotzy C, Hsieh F, Sakalosh M, Tengstrand E, Padmanabhan S, Merchant K, Bruecke C, Pirker W, Zimprich A, Sammler E. Gomes S, et al. NPJ Parkinsons Dis. 2023 Apr 4;9(1):52. doi: 10.1038/s41531-023-00482-4. NPJ Parkinsons Dis. 2023. PMID: 37015928 Free PMC article.
Discovery of XL01126: A Potent, Fast, Cooperative, Selective, Orally Bioavailable, and Blood-Brain Barrier Penetrant PROTAC Degrader of Leucine-Rich Repeat Kinase 2.
Liu X, Kalogeropulou AF, Domingos S, Makukhin N, Nirujogi RS, Singh F, Shpiro N, Saalfrank A, Sammler E, Ganley IG, Moreira R, Alessi DR, Ciulli A. Liu X, et al. J Am Chem Soc. 2022 Sep 21;144(37):16930-16952. doi: 10.1021/jacs.2c05499. Epub 2022 Aug 25. J Am Chem Soc. 2022. PMID: 36007011 Free PMC article.
The commercial genetic testing landscape for Parkinson's disease.
Cook L, Schulze J, Verbrugge J, Beck JC, Marder KS, Saunders-Pullman R, Klein C, Naito A, Alcalay RN; ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease; Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors; Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors. Cook L, et al. Parkinsonism Relat Disord. 2021 Nov;92:107-111. doi: 10.1016/j.parkreldis.2021.10.001. Epub 2021 Oct 19. Parkinsonism Relat Disord. 2021. PMID: 34696975 Free PMC article.
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort.
Usnich T, Vollstedt EJ, Schell N, Skrahina V, Bogdanovic X, Gaber H, Förster TM, Heuer A, Koleva-Alazeh N, Csoti I, Basak AN, Ertan S, Genc G, Bauer P, Lohmann K, Grünewald A, Schymanski EL, Trinh J, Schaake S, Berg D, Gruber D, Isaacson SH, Kühn AA, Mollenhauer B, Pedrosa DJ, Reetz K, Sammler EM, Valente EM, Valzania F, Volkmann J, Zittel S, Brüggemann N, Kasten M, Rolfs A, Klein C; LIPAD Study Group. Usnich T, et al. Front Neurol. 2021 Aug 9;12:710572. doi: 10.3389/fneur.2021.710572. eCollection 2021. Front Neurol. 2021. PMID: 34475849 Free PMC article.
R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils.
Fan Y, Nirujogi RS, Garrido A, Ruiz-Martínez J, Bergareche-Yarza A, Mondragón-Rezola E, Vinagre-Aragón A, Croitoru I, Gorostidi Pagola A, Paternain Markinez L, Alcalay R, Hickman RA, Düring J, Gomes S, Pratuseviciute N, Padmanabhan S, Valldeoriola F, Pérez Sisqués L, Malagelada C, Ximelis T, Molina Porcel L, Martí MJ, Tolosa E, Alessi DR, Sammler EM. Fan Y, et al. Acta Neuropathol. 2021 Sep;142(3):475-494. doi: 10.1007/s00401-021-02325-z. Epub 2021 Jun 14. Acta Neuropathol. 2021. PMID: 34125248 Free PMC article.
LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies.
Grochowska MM, Carreras Mascaro A, Boumeester V, Natale D, Breedveld GJ, Geut H, van Cappellen WA, Boon AJW, Kievit AJA, Sammler E; Netherlands Brain Bank; Parchi P, Cortelli P, Alessi DR, van de Berg WDJ, Bonifati V, Mandemakers W. Grochowska MM, et al. Acta Neuropathol. 2021 Jul;142(1):117-137. doi: 10.1007/s00401-021-02313-3. Epub 2021 Apr 28. Acta Neuropathol. 2021. PMID: 33913039 Free PMC article.
14 results