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LRRK2 and GBA1 variant carriers have higher urinary bis(monacylglycerol) phosphate concentrations in PPMI cohorts

We quantified concentrations of three isoforms of the endolysosomal lipid, bis(monoacylglycerol) phosphate (BMP) in the urine of deeply phenotyped cohorts in the Parkinson’s Progression Markers Initiative: LRRK2 G2019S PD (N = 134) and non-manifesting carriers (NMC) (G2019S+ NMC; N = 182), LRRK2 R14...

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Detalles Bibliográficos
Autores principales: Merchant, Kalpana M., Simuni, Tanya, Fedler, Janel, Caspell-Garcia, Chelsea, Brumm, Michael, Nudelman, Kelly N. H., Tengstrandt, Elizabeth, Hsieh, Frank, Alcalay, Roy N., Coffey, Christopher, Chahine, Lana, Foroud, Tatiana, Singleton, Andrew, Weintraub, Daniel, Hutten, Samantha, Sherer, Todd, Mollenhauer, Brit, Siderowf, Andrew, Tanner, Caroline, Marek, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9974978/
https://www.ncbi.nlm.nih.gov/pubmed/36854767
http://dx.doi.org/10.1038/s41531-023-00468-2