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Akademický článek

Aberrant axon initial segment plasticity and intrinsic excitability of ALS hiPSC motor neurons

Autor: Peter Harley, Caoimhe Kerins, Ariana Gatt, Guilherme Neves, Federica Riccio, Carolina Barcellos Machado, Aimee Cheesbrough, Lea R’Bibo, Juan Burrone, Ivo Lieberam

Publikováno v: Cell Reports, Vol 42, Iss 12, Pp 113509- (2023)

Summary: Dysregulated neuronal excitability is a hallmark of amyotrophic lateral sclerosis (ALS). We sought to investigate how functional changes to the axon initial segment (AIS), the site of action potential generation, could impact neuronal excita

Externí odkaz: https://doaj.org/article/f28f84f322ac4732be807557380b1703

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Akademický článek

Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R

Autor: Alexander Sandberg, Helen Ling, Marla Gearing, Beth Dombroski, Laura Cantwell, Lea R'Bibo, Allan Levey, Gerard D. Schellenberg, John Hardy, Nicholas Wood, Josefin Fernius, Sofie Nyström, Samuel Svensson, Stefan Thor, Per Hammarström, Tamas Revesz, Kin Y. Mok

Publikováno v: Neurobiology of Disease, Vol 146, Iss , Pp 105079- (2020)

Microtubule Associated Protein Tau (MAPT) forms proteopathic aggregates in several diseases. The G273R tau mutation, located in the first repeat region, was found by exome sequencing in a patient who presented with dementia and parkinsonism. We herei

Externí odkaz: https://doaj.org/article/f4fc7835db1b4223bcf2ec2d2ca9fce2

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APOE4 impairs myelination via cholesterol dysregulation in oligodendrocytes

Publikováno v: Nature

APOE4 is the strongest genetic risk factor for Alzheimer’s disease (AD)(1–3). Yet, the effects of APOE4 on the human brain are not fully understood, limiting opportunities to develop targeted therapeutics for APOE4 and other AD risk factors(4–8

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df54e657d5fe7daad7baaff25c0f9d13
https://europepmc.org/articles/PMC9870060/

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Biobased Elastomer Nanofibers Guide Light-Controlled Human-iPSC-Derived Skeletal Myofibers

Autor: Aimee Cheesbrough, Fabiola Sciscione, Federica Riccio, Peter Harley, Lea R'Bibo, Georgios Ziakas, Arnold Darbyshire, Ivo Lieberam, Wenhui Song

Publikováno v: Advanced materials (Deerfield Beach, Fla.). 34(18)

Generating skeletal muscle tissue that mimics the cellular alignment, maturation, and function of native skeletal muscle is an ongoing challenge in disease modeling and regenerative therapies. Skeletal muscle cultures require extracellular guidance a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f839c6396db7f6519248453e7ac9cf09
https://pubmed.ncbi.nlm.nih.gov/35231133

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Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

Autor: Regina H. Reynolds, Kerri J. Kinghorn, Lea R'Bibo, Alastair J. Noyce, Henry Houlden, Elena Zholdybayeva, Niccolo E. Mencacci, Patrick A. Lewis, Claudia Manzoni, Nazira Zharkinbekova, Daniah Trabzuni, Nicholas W. Wood, Sebastian Guelfi, John Hardy, Valentina Escott-Price, Rita Guerreiro, Ruth C. Lovering, Chris-Ann Mackenzie, Juan A. Botía, Álvaro Sánchez-Ferrer, John P. Quinn, Viola Volpato, Rauan Kaiyrzhanov, Peter Holmans, Caleb Webber, Huw R. Morris, Sonia Garcia Ruiz, Kirsten Harvey, Nigel Williams, Thomas Foltynie, Colin Smith, Viorica Chelban, Ben Middlehurst, Kin Y. Mok, Karishma D’Sa, Adaikalavan Ramasamy, Chingiz Shashakin, Kailash P. Bhatia, Helene Plun-Favreau, Jana Vandrovcova, Mina Ryten, Manuela Tan, Mie Rizig, Kimberley Billingsley, Demis A. Kia, Akbota Aitkulova, Paola Forabosco, Jose Bras, Michael E. Weale

Publikováno v: Brain

Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality. Psychiatric comorbidities, including anxiety,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1f195fce190cf6e612a95ad39f1155c
https://pubmed.ncbi.nlm.nih.gov/33578419

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Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

Publikováno v: Acta Neuropathologica
Acta Neuropathologica, Vol. 139, No 4 (2020) pp. 717-734
Ling, H, Gelpi, E, Davey, K, Jaunmuktane, Z, Mok, K Y, Jabbari, E, Simone, R, R'Bibo, L, Brandner, S, Ellis, M, Attems, J, Mann, D, Halliday, G M, Al-Sarraj, S, Hedreen, J, Ironside, J W, Kovacs, G G, Kovari, E, Love, S, Vonsattel, J P G, Allinson, K S J, Hansen, D, Bradshaw, T, Setó-Salvia, N, Wray, S, de Silva, R, Morris, H R, Warner, T T, Holton, J L & Revesz, T 2020, ' Fulminant corticobasal degeneration : a distinct variant with predominant neuronal tau aggregates ', Acta Neuropathologica . https://doi.org/10.1007/s00401-019-02119-4

Corticobasal degeneration typically progresses gradually over 5–7 years from onset till death. Fulminant corticobasal degeneration cases with a rapidly progressive course were rarely reported (RP-CBD). This study aimed to investigate their neuropat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c27e8e4743c2dd085f3d550f52436fb
https://www.repository.cam.ac.uk/handle/1810/306417

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Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R

Autor: Marla Gearing, Laura B. Cantwell, Helen Ling, John Hardy, Stefan Thor, Per Hammarström, Lea R'Bibo, Allan I. Levey, Kin Y. Mok, Tamas Revesz, Samuel P.S. Svensson, Nicholas W. Wood, Alexander Sandberg, Beth A. Dombroski, Josefin Fernius, Gerard D. Schellenberg, Sofie Nyström

Publikováno v: Neurobiology of Disease, Vol 146, Iss, Pp 105079-(2020)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a60ca8d3cfea85d96816b5da1b2cb597
https://pubmed.ncbi.nlm.nih.gov/32961270

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LRP10 in α-synucleinopathies

Autor: Demis A Kia, Marya S Sabir, Sarah Ahmed, Joanne Trinh, Sara Bandres-Ciga, Alastair J Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Manuela Tan, Henry Houlden, Huw R Morris, Helene Plun-Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, Jose Bras, John Quinn, Kin Y Mok, Kerri J. Kinghorn, Kimberley Billingsley, Nicholas W Wood, Patrick Lewis, Sebastian Schreglmann, Rita Guerreiro, Ruth Lovering, Lea R'Bibo, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott-Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean-Christophe Corvol, Maria Martinez, Claudia Schulte, Kathrin Brockmann, Javier Simón-Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Aude Nicolas, Mark R Cookson, Cornelis Blauwendraat, David W. Craig, Faraz Faghri, Raphael J. Gibbs, Dena G Hernandez, Kendall Van Keuren-Jensen, Joshua M. Shulman, Hirotaka Iwaki, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, Steven Lubbe, Steven Finkbeiner, Niccolo E. Mencacci, Codrin Lungu, Andrew B Singleton, Sonja W. Scholz, Xylena Reed, Roy N. Alcalay, Ziv Gan-Or, Guy A. Rouleau, Jacobus J van Hilten, Johan Marinus, Astrid D. Adarmes-Gómez, Miquel Aguilar, Ignacio Alvarez, Victoria Alvarez, Francisco J. Barrero, Jesús A. Bergareche Yarza, Inmaculada Bernal-Bernal, Marta Blazquez, Marta Bonilla-Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza-Rueda, Ana Cámara, Fátima Carrillo, Mario Carrión-Claro, Debora Cerdan, Jordi Clarimón, Monica Diez-Farien, Oriol Dols-Icardo, Jacinto Duarte, Raquel Duran, Francisco Escamilla-Sevilla, Mario Ezquerra, Cici Feliz, Manel Fernández, Rubén Fernández-Santiago, Ciara Garcia, Pedro García-Ruiz, Pilar Gómez-Garre, Maria Jose Gomez Heredia, Isabel Gonzalez-Aramburu, Ana Gorostidi Pagola, Janet Hoenicka, Jon Infante, Silvia Jesús, Adriano Jimenez-Escrig, Jaime Kulisevsky, Miguel A. Labrador-Espinosa, Jose L. Lopez-Sendon, Adolfo López de Munain Arregui, Daniel Macias, Irene Martínez Torres, Juan Marín, Maria Jose Marti, Juan Carlos Martínez- Castrillo, Carlota Méndez-del-Barrio, Manuel Menéndez González, Marina Mata, Adolfo Mínguez, Pablo Mir, Elisabet Mondragon Rezola, Esteban Muñoz, Javier Pagonabarraga, Pau Pastor, Francisco Perez Errazquin, Teresa Periñán-Tocino, Javier Ruiz-Martínez, Clara Ruz, Antonio Sanchez Rodriguez, María Sierra, Esther Suarez-Sanmartin, Cesar Tabernero, Juan Pablo Tartari, Cristina Tejera-Parrado, Eduard Tolosa, Francesc Valldeoriola, Laura Vargas-González, Lydia Vela, Francisco Vives, Alexander Zimprich, Lasse Pihlstrom, Mathias Toft, Sulev Koks, Pille Taba, Sharon Hassin-Baer

Publikováno v: The Lancet. Neurology. 17(12)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f9309328f0f9c55508935f9fb92d53e
https://pubmed.ncbi.nlm.nih.gov/30507388

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Publikováno v: Parkinsonism & related disorders 41 (2017): 37–43. doi:10.1016/j.parkreldis.2017.05.004
info:cnr-pdr/source/autori:Carecchio M.; Mencacci N.E.; Iodice A.; Pons R.; Panteghini C.; Zorzi G.; Zibordi F.; Bonakis A.; Dinopoulos A.; Jankovic J.; Stefanis L.; Bhatia K.P.; Monti V.; R'Bibo L.; Veneziano L.; Garavaglia B.; Fusco C.; Wood N.; Stamelou M.; Nardocci N./titolo:ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients/doi:10.1016%2Fj.parkreldis.2017.05.004/rivista:Parkinsonism & related disorders/anno:2017/pagina_da:37/pagina_a:43/intervallo_pagine:37–43/volume:41
Parkinsonism & Related Disorders

Introduction ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9e0a61699bff3d52aebfe852053a19a1

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