Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Leo J Pallanck"'
Autor:
Perinthottathil Sreejith, Sara Lolo, Kristen R Patten, Maduka Gunasinghe, Neya More, Leo J Pallanck, Rajnish Bharadwaj
Publikováno v:
PLoS Genetics, Vol 20, Iss 2, p e1011137 (2024)
Lipid dyshomeostasis has been implicated in a variety of diseases ranging from obesity to neurodegenerative disorders such as Neurodegeneration with Brain Iron Accumulation (NBIA). Here, we uncover the physiological role of Nazo, the Drosophila melan
Externí odkaz:
https://doaj.org/article/2e871913c086410b8f22740d483d153f
Autor:
Kathryn A Jewett, Ruth E Thomas, Chi Q Phan, Bernice Lin, Gillian Milstein, Selina Yu, Lisa F Bettcher, Fausto Carnevale Neto, Danijel Djukovic, Daniel Raftery, Leo J Pallanck, Marie Y Davis
Publikováno v:
PLoS Genetics, Vol 17, Iss 2, p e1008859 (2021)
Abnormal protein aggregation within neurons is a key pathologic feature of Parkinson's disease (PD). The spread of brain protein aggregates is associated with clinical disease progression, but how this occurs remains unclear. Mutations in glucosidase
Externí odkaz:
https://doaj.org/article/92b88a37fcba4275938c5a5130aed9b8
Autor:
Gautam Pareek, Leo J Pallanck
Publikováno v:
PLoS Genetics, Vol 16, Iss 10, p e1009118 (2020)
The m-AAA proteases play a critical role in the proteostasis of inner mitochondrial membrane proteins, and mutations in the genes encoding these proteases cause severe incurable neurological diseases. To further explore the biological role of the m-A
Externí odkaz:
https://doaj.org/article/20f9722ed02c47358b172da9db960780
Autor:
Colby L Samstag, Jake G Hoekstra, Chiu-Hui Huang, Mark J Chaisson, Richard J Youle, Scott R Kennedy, Leo J Pallanck
Publikováno v:
PLoS Genetics, Vol 14, Iss 11, p e1007805 (2018)
Mitochondrial DNA (mtDNA) mutations cause severe maternally inherited syndromes and the accumulation of somatic mtDNA mutations is implicated in aging and common diseases. However, the mechanisms that influence the frequency and pathogenicity of mtDN
Externí odkaz:
https://doaj.org/article/6cb3f3c6918441c4bd5d6df785a1fabc
Autor:
Ruth E Thomas, Evelyn S Vincow, Gennifer E Merrihew, Michael J MacCoss, Marie Y Davis, Leo J Pallanck
Publikováno v:
PLoS Genetics, Vol 14, Iss 9, p e1007694 (2018)
Mutations in the glucosylceramidase beta (GBA) gene are strongly associated with neurodegenerative diseases marked by protein aggregation. GBA encodes the lysosomal enzyme glucocerebrosidase, which breaks down glucosylceramide. A common explanation f
Externí odkaz:
https://doaj.org/article/07ab2422ea4a4a228037288da3383612
Autor:
Maulik R Patel, Ganesh K Miriyala, Aimee J Littleton, Heiko Yang, Kien Trinh, Janet M Young, Scott R Kennedy, Yukiko M Yamashita, Leo J Pallanck, Harmit S Malik
Publikováno v:
eLife, Vol 5 (2016)
Due to their strict maternal inheritance in most animals and plants, mitochondrial genomes are predicted to accumulate mutations that are beneficial or neutral in females but harmful in males. Although a few male-harming mtDNA mutations have been ide
Externí odkaz:
https://doaj.org/article/c373c09fcc644fbf953de27239bb24c7
Autor:
Marie Y Davis, Kien Trinh, Ruth E Thomas, Selina Yu, Alexandre A Germanos, Brittany N Whitley, Sergio Pablo Sardi, Thomas J Montine, Leo J Pallanck
Publikováno v:
PLoS Genetics, Vol 12, Iss 3, p e1005944 (2016)
Mutations in the glucosidase, beta, acid (GBA1) gene cause Gaucher's disease, and are the most common genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB) excluding variants of low penetrance. Because α-synuclein-cont
Externí odkaz:
https://doaj.org/article/3fb37e6949374aa09f6955f77c9a395e
Autor:
Leslie S Itsara, Scott R Kennedy, Edward J Fox, Selina Yu, Joshua J Hewitt, Monica Sanchez-Contreras, Fernando Cardozo-Pelaez, Leo J Pallanck
Publikováno v:
PLoS Genetics, Vol 10, Iss 2, p e1003974 (2014)
The accumulation of somatic mitochondrial DNA (mtDNA) mutations is implicated in aging and common diseases of the elderly, including cancer and neurodegenerative disease. However, the mechanisms that influence the frequency of somatic mtDNA mutations
Externí odkaz:
https://doaj.org/article/81090a2719dd446a93d158b50a33ec35
Publikováno v:
PLoS Genetics, Vol 10, Iss 5, p e1004279 (2014)
Loss-of-function mutations in PINK1, which encodes a mitochondrially targeted serine/threonine kinase, result in an early-onset heritable form of Parkinson's disease. Previous work has shown that PINK1 is constitutively degraded in healthy cells, but
Externí odkaz:
https://doaj.org/article/76bf563746e14727858dfcc3e6b5bb94
Autor:
Perinthottathil Sreejith, Sara Lolo, Kristen R. Patten, Maduka Gunasinghe, Neya More, Leo J. Pallanck, Rajnish Bharadwaj
SUMMARYLipid dyshomeostasis has been implicated in a variety of diseases ranging from obesity to neurodegenerative disorders such as NBIA. Here, we uncover the physiological role of Nazo, the Drosophila homolog of the NBIA-mutated protein – c19orf1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::66751ec6b3f7691dc7a4211583c05a26
https://doi.org/10.1101/2022.09.29.510106
https://doi.org/10.1101/2022.09.29.510106
