Results 61 to 70 of about 4,309 (206)

Gut-seeded α-synuclein fibrils promote gut dysfunction and brain pathology specifically in aged mice [PDF]

, 2020
Parkinson’s disease is a synucleinopathy that is characterized by motor dysfunction, death of midbrain dopaminergic neurons and accumulation of α-synuclein (α-Syn) aggregates.
Challis, Collin, Challis, Rosemary C., Gradinaru, Viviana, Hamilton, Adam M., Hori, Acacia, Mazmanian, Sarkis K., Sampson, Timothy R., Volpicelli-Daley, Laura A., Yoo, Bryan B.   +8 more
core  

Neurodegenerative Diseases and Autophagy [PDF]

, 2018
Most neurodegenerative diseases are characterized by the accumulation of aggregated proteins within neurons. These aggregate-prone proteins cause toxicity, a phenomenon that is further exacerbated when there is defective protein clearance.
Aflaki, Aflaki, Aguado, Aguib, Akizu, Al-Saif, Alves, Ando, Ando, Andrew, Argov, Argov, Arrasate, Ashkenazi, Axe, Ballabio, Belzil, Benjamin, Bento, Berger, Bernhardt, Biazik, Bitoun, Bjorkoy, Blanz, Blommaart, Boland, Bouhouche, Bryceson, Butzlaff, Byrne, Caccamo, Caccamo, Caccamo, Cadwell, Castillo, Castillo, Cataldo, Cataldo, Chan, Chang, Chen, Chen, Chen, Cheroni, Chesser, Chung, Cirulli, Citron, Coffey, Colacurcio, Conner, Corcelle-Termeau, Cortes, Cortes, Criado, Cullup, Cunha-Santos, Cunningham, Daud, Davies, de Duve, DeBosch, Decressac, Dehay, DeJesus-Hernandez, del Campo, Deng, Deretic, DeSelm, Di Bartolomeo, Dierks, Dionisi Vici, Dooley, Dowdle, Dressel, Du, Duran, Durcan, Durcan, Durieux, Egan, Eisenberg, Eisenberg, Emanuele, Endo, Fader, Fang, Farg, Farrer, Fecto, Fernandes, Filimonenko, Fink, Fleming, Fraldi, Freischmidt, Fujita, Fullgrabe, Furuta, Gal, Ganley, Ganley, Gatchel, Gautam, Ge, Ge, Ghavidel, Goedert, Goedert, Gomez-Sanchez, Goode, Graef, Haack, Hadano, Hamacher-Brady, Hamasaki, Hansen, Hara, Harms, Harris, Hawkins-Salsbury, Hayashi-Nishino, Heitman, Heo, Hirst, Hong, Hosokawa, Hsieh, Huang, Huett, Huotari, Ichimura, Itakura, Jaeger, Jahn, Jang, Jang, Jiang, Jung, Kamiya, Kane, Kaneb, Karanasios, Kaushik, Kazlauskaite, Kett, Khaminets, Khaminets, Khurana, Kim, Kim, Kim, Kim, Kimura, Kimura, Kirkin, Kitada, Knaevelsrud, Knorr, Komatsu, Komatsu, Komatsu, Komatsu, Kondapalli, Koyano, Kraft, Krasniak, Kruger, Kuma, Kyttala, Labuzek, Lacovich, Lamb, Laplante, Lazarou, Lee, Lee, Lee, Lee, Lee, Levine, Li, Li, Liang, Lin, Liu, Liu, Liu, Lloyd-Evans, Lloyd-Evans, Longatti, Lonskaya, Lonskaya, Lopez, Lopez de Maturana, Lu, Lu, Lunemann, Luty, Luzio, Lv, Ma, Ma, Magalhaes, Majid, Mancias, Mandell, Manzanillo, Marshall, Martinez-Vicente, Maruyama, Matikainen-Ankney, Mawuenyega, Mayer, Mazzulli, Mazzulli, McWilliams, Mealer, Medina, Melser, Menzies, Menzies, Menzies, Michaud, Millecamps, Minassian, Mizuno, Mizushima, Mizushima, Mizushima, Mochida, Moore, Moreau, Moreau, Morimoto, Murphy, Murray, Myeku, Nakatogawa, Narang, Narendra, Nascimento-Ferreira, Nazio, Newman, Nguyen, Nilsson, Nishiyama, Nixon, Nixon, Noda, Onofre, Ordureau, Orsi, Oz-Levi, Ozcelik, Pacheco, Palikaras, Pankiv, Papinski, Park, Park, Pavel, Perez, Pickford, Pickrell, Pilli, Piras, Platt, Potter, Poupetova, Proikas-Cezanne, Pryor, Puls, Puri, Pyo, Ramesh Babu, Randow, Ravikumar, Ravikumar, Ravikumar, Ravikumar, Ravikumar, Razi, Reinwald, Renvoise, Richards, Rockenstein, Roczniak-Ferguson, Rodriguez-Navarro, Rogov, Rohn, Roosen, Rose, Rubinsztein, Rubinsztein, Rui, Russell, Rusten, Saftig, Sahu, Saitsu, Sanchez-Martinez, Sandoval, Sanjuan, Sano, Sardiello, Sarkar, Sarkar, Sato, Schaeffer, Schreiber, Schroder, Sellier, Seok, Serrano-Puebla, Settembre, Settembre, Settembre, Shaid, Shen, Shibata, Shibutani, Siddiqi, Siddiqui, Simonsen, Singh, Small, Son, Sorbara, Sou, Spampanato, Spilman, Staats, Stadel, Sun, Sundaramoorthy, Svenning, Tan, Tanaka, Tang, Tanji, Teyssou, Thurston, Tian, Tian, Tiede, Tien, Tsuboyama, Tsunemi, Tumbarello, Ugolino, Ulgherait, Ushio, Valente, Vantaggiato, Varga, Velikkakath, Vidoni, Vingtdeux, Vollrath, Wang, Wang, Wang, Watabe, Webb, Webster, Weedon, Wei, West, Wild, Williams, Williams, Winklhofer, Winslow, Wolfe, Wong, Wraith, Wu, Xi, Yamamoto, Yazdankhah, Yla-Anttila, Yoshii, Yu, Yu, Yu, Yuan, Yue, Zare-Shahabadi, Zavodszky, Zhang, Zhang, Zhang, Zhang, Zhang, Zhao, Zhao, Zheng, Zhou, Zhou, Zuchner   +401 more
core   +1 more source

The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin

Annals of Neurology, EarlyView.
Objectives The objective of this study was to elucidate differences in the cumulative incidence of Leucine‐rich repeat kinase 2 (LRRK2) p.Gly2019Ser‐related Parkinson's disease (PD; LRRK2‐PD) between ancestries and countries. Methods We included 922 unrelated p.Gly2019Ser variant carriers (affected = 762 and unaffected = 160) from the Global Parkinson ...
Theresa Lüth, Björn‐Hergen Laabs, Sebastian Sendel, Inke R. König, Amke Caliebe, Alastair J. Noyce, Laurel A. Screven, Soraya Bardien, Matthew Farrer, Faycel Hentati, Rim Amouri, Christine Klein, Samia Ben Sassi, Joanne Trinh, Global Parkinson's Genetics Program (GP2)   +14 more
wiley   +1 more source

Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy

Pharmaceutics
Background/Objectives: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene. Type 1 Gaucher disease is characterised by substrate accumulation in the visceral organs, which occurs in combination ...
Amy F. Geard, Giulia Massaro, Michael P. Hughes, Patrick Arbuthnot, Simon N. Waddington, Ahad A. Rahim   +5 more
doaj   +1 more source

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event

Molecular Genetics and Metabolism, 2011
Gaucher disease is the most frequent lysosomal storage disorder due to the autosomal recessive deficiency of acid β-glucosidase. More than 300 mutations in the GBA1 gene have been described. However only one large deletion of the GBA1 gene has been reported to date.
Cozar M, Bembi B, Dominissini S, Zampieri S, Vilageliu L, Grinberg D, Dardis A   +6 more
openaire   +4 more sources

Comparative Analysis of the Incidence, Prevalence, and Survival of 8 Types of Parkinsonism in a Population‐Based Study with 367 Million Person Years of Observation over 21 Years

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Findings are contradictory regarding changes in the incidence and prevalence of Parkinson's disease (PD) over time; data for other parkinsonian disorders are rare. Objectives To analyze temporal trends in the incidence and prevalence of eight parkinsonisms (PD, MSA, PSP, CBS, DLB, vascular parkinsonism, drug‐induced parkinsonism ...
Sacha E. Gandhi, Katherine A. Grosset, Prasanth A. Iruthayaraj, Romel Gravesande, Lance Lee, Cathal Doyle, Yoav Ben‐Shlomo, Donald G. Grosset   +7 more
wiley   +1 more source

Ambroxol effects in glucocerebrosidase and -synuclein transgenic mice [PDF]

, 2016
Objective. Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase.
Bezard, E, Daly, L, Migdalska-Richards, A, Schapira, AHV   +3 more
core  

Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases [PDF]

, 2016
Lysosomal storage disorders (LSDs) are often caused by mutations that destabilize native folding and impair the trafficking of enzymes, leading to premature endoplasmic reticulum (ER)-associated degradation, deficiencies of specific hydrolytic functions ...
García-Fernández, José Manuel, Ortiz-Mellet, Carmen, Sánchez-Fernández, Elena M.   +2 more
core   +1 more source

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo, Genko Oyama, Mai Shimizu, Haruka Takeshige‐Amano, Takashi Ogawa, Wataru Sako, Noriko Nishikawa, Taku Hatano, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Masanobu Ito, Hirokazu Iwamuro, Atsushi Umemura, Nobutaka Hattori   +14 more
wiley   +1 more source

GBA1 Thr408Met mutation in a patient with Parkinson’s disease

Zhongguo Linchuang Yixue
GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing ...
Yi ZHAO, Junwen LI, Chunlian JU, Weibin QIU, Bo ZUO, Zhigang YANG, Yansheng LI   +6 more
doaj   +1 more source