Results 41 to 50 of about 11,293 (160)

The Expanding Clinical Universe of Polyglutamine Disease [PDF]

The Neuroscientist, 2019
Polyglutamine (polyQ) diseases are a group of hereditary neurodegenerative disorders caused by expansion of unstable polyQ repeats in their associated disease proteins. To date, the pathogenesis of each disease remains poorly understood, and there are no effective treatments.
Shanshan, Huang, Suiqiang, Zhu, Xiao-Jiang, Li, Shihua, Li   +3 more
openaire   +2 more sources

The role of ubiquitination in spinal and bulbar muscular atrophy

Frontiers in Molecular Neuroscience, 2022
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative and neuromuscular genetic disease caused by the expansion of a polyglutamine-encoding CAG tract in the androgen receptor (AR) gene.
Medha Sengupta, Anna Pluciennik, Diane E. Merry   +2 more
doaj   +1 more source

Current understanding on the pathogenesis of polyglutamine diseases [PDF]

Neuroscience Bulletin, 2010
Polyglutamine (polyQ) diseases are a family of neurodegenerative disorders including Huntington's disease, spinobulbar muscular atrophy, dentatorubral-pallidoluysian atrophy and several spinocerebellar ataxias. polyQ diseases are caused by abnormal expansion of CAG repeats in certain genes.
Xiao-Hui, He, Fang, Lin, Zheng-Hong, Qin
openaire   +2 more sources

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

QBP1 Peptide as a Potential Anti‐Amyloidogenic Therapy for Type 2 Diabetes: An In Vitro Study

Advanced Science, EarlyView.
The anti‐amyloidogenic peptide QBP1 effectively halts human islet amyloid polypeptide (hIAPP) aggregation, preventing the formation of toxic β‐structured intermediates. Through a combination of biophysical assays, molecular dynamics, and cell‐based studies, QBP1 is shown to preserve β‐cell viability and metabolic homeostasis, positioning it as a ...
María M. Tejero‐Ojeda, Ada Bernaus Vives, Michał Wojciechowski, Dinh Quoc Huy Pham, Mateusz Chwastyk, Mario Vallejo, Anna Novials, Douglas V. Laurents, Mariano Carrión‐Vázquez   +8 more
wiley   +1 more source

Polyglutamine expansion affects huntingtin conformation in multiple Huntington’s disease models

Scientific Reports, 2017
Conformational changes in disease-associated or mutant proteins represent a key pathological aspect of Huntington’s disease (HD) and other protein misfolding diseases.
Manuel Daldin, Valentina Fodale, Cristina Cariulo, Lucia Azzollini, Margherita Verani, Paola Martufi, Maria Carolina Spiezia, Sean M. Deguire, Marta Cherubini, Douglas Macdonald, Andreas Weiss, Alberto Bresciani, Jean-Paul Gerard Vonsattel, Lara Petricca, J. Lawrence Marsh, Silvia Gines, Iolanda Santimone, Massimo Marano, Hilal A. Lashuel, Ferdinando Squitieri, Andrea Caricasole   +20 more
doaj   +1 more source

Effect of osmolytes on the conformation and aggregation of some amyloid peptides: CD spectroscopic data

Data in Brief, 2016
Protein misfolding and aggregation are responsible for a large number of diseases called protein conformational diseases or disorders that include Alzheimer׳s disease, Huntington׳s diseases, Prion related encephalopathies and type-II diabetes (http://dx ...
Mohammed Inayathullah, Jayakumar Rajadas
doaj   +1 more source

Polyglutamine toxicity is controlled by prion composition and gene dosage in yeast. [PDF]

PLoS Genetics, 2012
Polyglutamine expansion causes diseases in humans and other mammals. One example is Huntington's disease. Fragments of human huntingtin protein having an expanded polyglutamine stretch form aggregates and cause cytotoxicity in yeast cells bearing ...
He Gong, Nina V Romanova, Kim D Allen, Pavithra Chandramowlishwaran, Kavita Gokhale, Gary P Newnam, Piotr Mieczkowski, Michael Y Sherman, Yury O Chernoff   +8 more
doaj   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source