Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Janet Hoenicka"'
Autor:
Laura Domínguez-Berzosa, Lara Cantarero, María Rodríguez-Sanz, Gemma Tort, Elena Garrido, Johanna Troya-Balseca, María Sáez, Xóchitl Helga Castro-Martínez, Sara Fernandez-Lizarbe, Edurne Urquizu, Enrique Calvo, Juan Antonio López, Tomás Palomo, Francesc Palau, Janet Hoenicka
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10705 (2024)
The TaqIA polymorphism is a marker of both the Ankyrin Repeat and Kinase Domain containing I gene (ANKK1) encoding a RIP-kinase, and the DRD2 gene for the dopamine receptor D2. Despite a large number of studies of TaqIA in addictions and other psychi
Externí odkaz:
https://doaj.org/article/6c0ac52bfe6744d3900af657623dc296
Autor:
Daniel Natera‐de Benito, Jonathan Olival, Carla Garcia‐Cabau, Cristina Jou, Mònica Roldan, Anna Codina, Jessica Expósito‐Escudero, Cristina Batlle, Laura Carrera‐García, Carlos Ortez, Xavier Salvatella, Francesc Palau, Andrés Nascimento, Janet Hoenicka
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 3, Pp 408-425 (2023)
Abstract Objective Mutations in ANXA11 cause amyotrophic lateral sclerosis (ALS) and have recently been identified as a cause of multisystem proteinopathy and adult‐onset muscular dystrophy. These conditions are adult‐onset diseases and result fr
Externí odkaz:
https://doaj.org/article/078decfbead04403a37de8b0a43ecdd4
Publikováno v:
Biology Open, Vol 12, Iss 4 (2023)
Externí odkaz:
https://doaj.org/article/63b307ab3ec94a078e071340ab5ba8dc
Autor:
Estela Pérez-Santamarina, Pedro García-Ruiz, Dolores Martínez-Rubio, Mario Ezquerra, Irene Pla-Navarro, Jorge Puente, María José Martí, Francesc Palau, Janet Hoenicka
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Parkinson’s disease (PD) is characterized by cerebral dopamine depletion that causes motor and cognitive deficits. The dopamine-related gene ANKK1 has been associated with neuropsychiatric disorders with a dopaminergic deficiency in the st
Externí odkaz:
https://doaj.org/article/b94e1e211a1843e58d9c48db44c76a82
Autor:
Jordi Pijuan, Lara Cantarero, Daniel Natera-de Benito, Arola Altimir, Anna Altisent-Huguet, Yaiza Díaz-Osorio, Laura Carrera-García, Jessica Expósito-Escudero, Carlos Ortez, Andrés Nascimento, Janet Hoenicka, Francesc Palau
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Mitochondrial network is constantly in a dynamic and regulated balance of fusion and fission processes, which is known as mitochondrial dynamics. Mitochondria make physical contacts with almost every other membrane in the cell thus impacting cellular
Externí odkaz:
https://doaj.org/article/3a03756d74614ebeae12da4fa75aa338
Autor:
Azahara Civera-Tregón, Laura Domínguez, Paula Martínez-Valero, Clàudia Serrano, Alex Vallmitjana, Raúl Benítez, Janet Hoenicka, Jorgina Satrústegui, Francesc Palau
Publikováno v:
Neurobiology of Disease, Vol 152, Iss , Pp 105300- (2021)
Ganglioside-induced differentiation associated protein 1 (GDAP1) gene encodes a protein of the mitochondrial outer membrane and of the mitochondrial membrane contacts with the endoplasmic reticulum (MAMs) and lysosomes. Since mutations in GDAP1 cause
Externí odkaz:
https://doaj.org/article/514e4792cc8848fbaf12d9db9ad223b4
Autor:
Estela Pérez‑Santamarina, Pedro García‑Ruiz, Dolores Martínez‑Rubio, Mario Ezquerra, Irene Pla‑Navarro, Jorge Puente, María José Martí, Francesc Palau, Janet Hoenicka
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/714fa5d0d0674e93a64ec2eacb44e8b3
Autor:
Elena Díaz-Santiago, M. Gonzalo Claros, Raquel Yahyaoui, Yolanda de Diego-Otero, Rocío Calvo, Janet Hoenicka, Francesc Palau, Juan A. G. Ranea, James R. Perkins
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2021)
Neuromuscular disorders (NMDs) represent an important subset of rare diseases associated with elevated morbidity and mortality whose diagnosis can take years. Here we present a novel approach using systems biology to produce functionally-coherent phe
Externí odkaz:
https://doaj.org/article/0b1a57da523a479ebbf16cd47b3994b9
Autor:
Dèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, Judith Armstrong, Loreto Martorell, Guerau Fernàndez, Joan Maynou, Cristina Jou, Mònica Roldan, Carlos Ortez, Andrés Nascimento, Janet Hoenicka, Francesc Palau
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 8, p 4274 (2021)
The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the grouping of clinical symptoms and signs towards the molecular definition. Optimal clinical, biochemical, electrophysiological, electrophysiological, and histopath
Externí odkaz:
https://doaj.org/article/ba8499c4c8f84601b4f8958055d6ef46
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 7, p 2516 (2020)
The TaqIA single nucleotide variant (SNV) has been tested for association with addictions in a huge number of studies. TaqIA is located in the ankyrin repeat and kinase domain containing 1 gene (ANKK1) that codes for a receptor interacting protein ki
Externí odkaz:
https://doaj.org/article/4859c0131f68410cb0f969f92c11f0c1