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The CCTδ subunit of the molecular chaperone CCT is required for correct localisation of p150 to spindle poles during mitosis.
Eur J Cell Biol
September 2024
Department of Chemistry and Molecular Biology, University of Gothenburg, Gothenburg 40530, Sweden. Electronic address:
Chaperonin Containing Tailless complex polypeptide 1 (CCT) is a molecular chaperone composed of eight distinct subunits that can exist as individual monomers or as components of a double oligomeric ring, which is essential for the folding of actin and tubulin and other substrates. Here we assess the role of CCT subunits in the context of cell cycle progression by individual subunit depletions upon siRNA treatment in mammalian cells. The depletion of individual CCT subunits leads to variation in the distribution of cell cycle phases and changes in mitotic index.
View Article and Find Full Text PDFDistal hereditary motor neuropathies.
Rev Neurol (Paris)
December 2024
Neurosciences Laboratory, University Benyoucef Benkhedda, Algiers, Algeria; Department of Neurology, EHS El Maham, Cherchell,Tipaza, Algeria.
Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous hereditary disorders characterized by a slowly progressive distal pure motor neuropathy. Electrophysiology, with normal motor and sensory conduction velocities, can suggest the diagnosis of dHMN and guide the genetic study. More than thirty genes are currently associated with HMNs, but around 60 to 70% of cases of dHMN remain uncharacterized genetically.
View Article and Find Full Text PDFSwedish Alzheimer's disease variant perturbs activity of retrograde molecular motors and causes widespread derangement of axonal transport pathways.
J Biol Chem
April 2024
Translational Ageing and Neuroscience Program, Centre for Translational Medicine, International Clinical Research Centre, St Anne's University Hospital, Brno, Czech Republic; Institute for Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czech Republic; Division of Neurology, University Medical Centre, Ljubljana, Slovenia; Department of Neurosciences, Mayo Clinic, Rochester, Minnesota, USA. Electronic address:
Experimental studies in flies, mice, and humans suggest a significant role of impaired axonal transport in the pathogenesis of Alzheimer's disease (AD). The mechanisms underlying these impairments in axonal transport, however, remain poorly understood. Here we report that the Swedish familial AD mutation causes a standstill of the amyloid precursor protein (APP) in the axons at the expense of its reduced anterograde transport.
View Article and Find Full Text PDF[A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family].
Zhonghua Nei Ke Za Zhi
December 2022
Department of Neurology, Heping Hospital Affiliated to Changzhi Medical College, Changzhi 046000,China.
To clarify the pathogenicity and further explore the association between genotype and clinical phenotype of this variant, analyzing a novel variation of SPAST gene in hereditary spastic paraplegia (HSP) family from Changzhi city, Shanxi Province. A family with HSP was tracked and collected in Neurology Department of Heping Hospital Affiliated to Changzhi Medical College in October 2019. Peripheral venous blood of 2 ml was extracted from the proband and 8 other members of the family, genomic DNA was extracted from the blood samples, and the genes of spastic paraplegia were screened by next-generation sequencing (NGS).
View Article and Find Full Text PDFPerry Syndrome with a Novel Mutation and a Rare Presentation: First Report from India.
Ann Indian Acad Neurol
June 2022
Department of Neurology, Manipal Hospital, Bengaluru, Karnataka, India.
Article Synopsis
- - A 62-year-old male in India was diagnosed with Perry syndrome after presenting with severe respiratory issues and neurological symptoms, including seizures and unsteady gait, alongside a family history of similar illnesses.
- - Extensive tests ruled out various neuromuscular diseases and conditions, leading to the discovery of a specific genetic mutation in the DCTN1 gene related to Perry syndrome, which is a rare and fatal autosomal dominant disorder.
- - The patient showed some improvement with treatment using Levodopa and neurorehabilitation, but ultimately passed away three years later, emphasizing the importance of considering Perry syndrome in similar clinical cases.
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