Results 201 to 210 of about 2,441,926 (254)

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Rearrangement of the Cell Chaperone Machinery in Human Fibrosarcoma HT1080 Cells With the Knocked-Out HSP90AA1 Gene Encoding Hsp90α. [PDF]

Biol Cell
Petrenko V, Vrublevskaya V, Skarga Y, Zhmurina M, Morenkov O.   +4 more
europepmc   +1 more source

Pharmacological chaperone therapy for Fabry disease. [PDF]

Proc Jpn Acad Ser B Phys Biol Sci, 2012
Ishii S.
europepmc   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Chaperone-mediated autophagy as a regulator of hallmarks of cancer. [PDF]

Front Oncol
Tiwari M, Sharma LK, Chakravarti B, Singh VK, Singh S, Shrivastava A.   +5 more
europepmc   +1 more source

Protein Glutamylation: From Cytoskeleton to Signaling

Med Research, EarlyView.
Tubulin glutamylation, γ‐glutamylation, and nontubulin glutamylation are distinct yet interconnected post‐translational modifications that regulate diverse physiological and pathological processes, including cytoskeletal organization, cell cycle progression, immunity, metabolism, and disease development.
Jiayuan Chen, Yi Yuan, Qingquan Yu, Xinyue Wang, Hui Wang   +4 more
wiley   +1 more source

Bypassing the Blood-Brain Barrier: A Dual-Axis Framework for Alzheimer's Disease Utilizing Glymphatic-Lymphatic Clearance and In Situ Chaperone Synthesis. [PDF]

Cureus
Chen HW.
europepmc   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Context-Dependent Roles of Rnd3 in Cancer: Revisiting a Functional Paradox. [PDF]

Cells
Lledó E, Gómez O, Bizy A, Solana-Orts A, Terrado J, Ballester-Lurbe B, Poch E.   +6 more
europepmc   +1 more source