Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Estela Area‐Gomez"'
Autor:
Atul Kumar, Delfina Larrea, Maria Elena Pero, Paola Infante, Marilisa Conenna, Grace J. Shin, Vincent Van Elias, Wesley B. Grueber, Lucia Di Marcotullio, Estela Area-Gomez, Francesca Bartolini
Publikováno v:
iScience, Vol 27, Iss 6, Pp 109994- (2024)
Summary: Mitofusin-2 (MFN2), a large GTPase residing in the mitochondrial outer membrane and mutated in Charcot-Marie-Tooth type 2 disease (CMT2A), is a regulator of mitochondrial fusion and tethering with the ER. The role of MFN2 in mitochondrial tr
Externí odkaz:
https://doaj.org/article/185508bba22b4bce9a9bac5a7ed10d23
Autor:
Irene García Toledo, Juan Miguel Godoy Corchuelo, Zeinab Ali, Jesús Jimenez-Rodriguez, Irene Jimenez-Coca, Anna Fernández-Bernal, Mariona Jové, Èlia Obis, Jorge Matias-Guiu, Thommas Cunningham, Manuel Portero-Otin, Reinald Pamplona, Estela Area-Gomez, Silvia Corrochano
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp S409- (2023)
Externí odkaz:
https://doaj.org/article/f70be57aa2d54e7bbf8ffee89f5dfa42
Autor:
Ferley A. Bedoya-Guzmán, Mar Pacheco-Herrero, Ivan Daniel Salomon-Cruz, Angela Maria Barrera-Sandoval, Johanna Andrea Gutierrez Vargas, Javier Gustavo Villamil-Ortiz, Carlos Andres Villegas Lanau, Julián David Arias-Londoño, Estela Area-Gomez, Gloria Patricia Cardona Gomez
Publikováno v:
Frontiers in Aging Neuroscience, Vol 15 (2023)
IntroductionProteolytic processing of amyloid protein precursor by β-site secretase enzyme (BACE1) is dependent on the cellular lipid composition and is affected by endomembrane trafficking in dementia and Alzheimer's disease (AD). Stearoyl-CoA desa
Externí odkaz:
https://doaj.org/article/08f0a48869e641bca36a3e9171009bf7
Autor:
Nathalie Launay, Montserrat Ruiz, Laura Planas-Serra, Edgard Verdura, Agustí Rodríguez-Palmero, Agatha Schlüter, Leire Goicoechea, Cristina Guilera, Josefina Casas, Felix Campelo, Emmanuelle Jouanguy, Jean-Laurent Casanova, Odile Boespflug-Tanguy, Maria Vazquez Cancela, Luis González Gutiérrez-Solana, Carlos Casasnovas, Estela Area-Gomez, Aurora Pujol
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 14 (2023)
The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF). Here, we describe 3 individuals from 2 unrelate
Externí odkaz:
https://doaj.org/article/acc98cdd521c4feb9a2e50e1be116f80
Autor:
Jacinda Chen, Rajesh Kumar Soni, Yimeng Xu, Sabrina Simoes, Feng-Xia Liang, Laura DeFreitas, Robert Hwang, Jr., Jorge Montesinos, Joseph H. Lee, Estela Area-Gomez, Renu Nandakumar, Badri Vardarajan, Catherine Marquer
Publikováno v:
EBioMedicine, Vol 92, Iss , Pp 104628- (2023)
Summary: Background: The most common form of neuronal ceroid lipofuscinosis (NCL) is juvenile CLN3 disease (JNCL), a currently incurable neurodegenerative disorder caused by mutations in the CLN3 gene. Based on our previous work and on the premise th
Externí odkaz:
https://doaj.org/article/7c799b4b21b24ad59d3201ed5f5b8cc6
Autor:
Hila Avisar, Cristina Guardia-Laguarta, Matthew Surface, Nikos Papagiannakis, Matina Maniati, Roubina Antonellou, Dimitra Papadimitriou, Christos Koros, Aglaia Athanassiadou, Serge Przedborski, Boaz Lerner, Leonidas Stefanis, Estela Area-Gomez, Roy N. Alcalay
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-10 (2022)
Abstract Lipid profiles in biological fluids from patients with Parkinson’s disease (PD) are increasingly investigated in search of biomarkers. However, the lipid profiles in genetic PD remain to be determined, a gap of knowledge of particular inte
Externí odkaz:
https://doaj.org/article/83b6cfbe26d145959efe4f680aa04238
Autor:
André Miguel Miranda, Archana Ashok, Robin Barry Chan, Bowen Zhou, Yimeng Xu, Laura Beth McIntire, Estela Area-Gomez, Gilbert Di Paolo, Karen E. Duff, Tiago Gil Oliveira, Tal Nuriel
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Apolipoprotein E ε4 (APOE4) is the primary genetic risk factor for the late-onset form of Alzheimer’s disease (AD). Although the reason for this association is not completely understood, researchers have uncovered numerous effects of APOE
Externí odkaz:
https://doaj.org/article/1b664e375f334e4581d06cefe755b424
Autor:
Estela Area-Gomez, D. Larrea, T. Yun, Y. Xu, J. Hupf, F. Zandkarimi, R. B. Chan, H. Mitsumoto
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Motor neuron disorders (MND) include a group of pathologies that affect upper and/or lower motor neurons. Among them, amyotrophic lateral sclerosis (ALS) is characterized by progressive muscle weakness, with fatal outcomes only in a few year
Externí odkaz:
https://doaj.org/article/d9ac3cd69e5d4df1afc469dd47aa55ca
Publikováno v:
Neurobiology of Disease, Vol 145, Iss , Pp 105062- (2020)
The discovery of contact sites was a breakthrough in cell biology. We have learned that an organelle cannot function in isolation, and that many cellular functions depend on communication between two or more organelles. One such contact site results
Externí odkaz:
https://doaj.org/article/c4f211be16204826ba2c939c9fc147e3
Autor:
Christina W Agudelo, Britta K Kumley, Estela Area-Gomez, Yimeng Xu, Abdoulaye J Dabo, Patrick Geraghty, Michael Campos, Robert Foronjy, Itsaso Garcia-Arcos
Publikováno v:
PLoS ONE, Vol 15, Iss 2, p e0228279 (2020)
Smoke exposure is known to decrease total pulmonary surfactant and alter its composition, but the role of surfactant in chronic obstructive pulmonary disease (COPD) remains unknown. We aimed to analyze the compositional changes in the surfactant lipi
Externí odkaz:
https://doaj.org/article/3e8ecab513444397a53cbb2d12688b60