Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Jenny, Do"'
Autor:
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display cilio
Externí odkaz:
https://doaj.org/article/af57c8de8d9140e89c63f41fb89329f6
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100306- (2023)
Externí odkaz:
https://doaj.org/article/0419e62fe1c64e1fa41ecc2624466814
Publikováno v:
Molecular Neurodegeneration, Vol 14, Iss 1, Pp 1-16 (2019)
Abstract Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are among the most common known genetic risk factors for the development of Parkinson disease and related synucleinopathies. A great deal is known about GBA1, as m
Externí odkaz:
https://doaj.org/article/6c6a54bc72fa447cb857f2cbcadd5484
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 15, p 8061 (2022)
In the atria, the rapid delayed rectifier channel (IKr) is a critical contributor to repolarization. In lipotoxic atria, increased activity of the serine/threonine mammalian target of rapamycin (mTOR) may remodel IKr and predispose patients to arrhyt
Externí odkaz:
https://doaj.org/article/0e7960601a9f414bb5165ace1af078a2
Autor:
Md. Kamrul Hasan Chowdhury, Laura Martinez-Mateu, Jenny Do, Kelly A. Aromolaran, Javier Saiz, Ademuyiwa S. Aromolaran
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 20, p 11249 (2021)
In the heart, the delayed rectifier K current, IK, composed of the rapid (IKr) and slow (IKs) components contributes prominently to normal cardiac repolarization. In lipotoxicity, chronic elevation of pro-inflammatory cytokines may remodel IK, elevat
Externí odkaz:
https://doaj.org/article/29d27d08a6a74e5fa214aa52acbd2197
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 13, p 6826 (2021)
Mutations in GBA1, the gene encoding glucocerebrosidase, are common genetic risk factors for Parkinson disease (PD). While the mechanism underlying this relationship is unclear, patients with GBA1-associated PD often have an earlier onset and faster
Externí odkaz:
https://doaj.org/article/5e6338651a9d4578bc4ea985265367ce
Publikováno v:
International journal of molecular sciences. 23(15)
In the atria, the rapid delayed rectifier channel (
Publikováno v:
Expert Opin Ther Targets
INTRODUCTION: The association between Gaucher disease and Parkinson’s disease was first recognized in the clinic, where it was noted that patients with Gaucher disease, caused by the inherited deficiency of the lysosomal enzyme glucocerebrosidase,
Autor:
Ademuyiwa S. Aromolaran, Laura Martinez-Mateu, Jenny Do, Kelly A. Aromolaran, Javier Saiz, Md. Kamrul Hasan Chowdhury
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11249, p 11249 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 20
RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instname
International Journal of Molecular Sciences
Volume 22
Issue 20
RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instname
[EN] In the heart, the delayed rectifier K current, I-K, composed of the rapid (I-Kr) and slow (I-Ks) components contributes prominently to normal cardiac repolarization. In lipotoxicity, chronic elevation of pro-inflammatory cytokines may remodel I-
Publikováno v:
Trends in Neurosciences. 42:631-643
Homozygous and heterozygous mutations in GBA1, the gene implicated in Gaucher disease, increase the risk and severity of Parkinson disease (PD). We evaluated the design, phenotype, strengths, and limitations of current GBA1-associated PD mouse models