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The primary cilium gene CPLANE1 is required for peripheral nervous system development.
Dev Biol
December 2024
Department of Molecular Life Sciences and Neuroscience Center Zurich, University of Zurich; University Research Priority Program 'Adaptive Brain Circuits in Development and Learning' (URPP AdaBD), University of Zurich. Electronic address:
Ciliopathies are a group of neurodevelopmental disorders characterized by the dysfunction of the primary cilium. This small protrusion from most cells of our body serves as a signaling hub for cell-to-cell communication during development. Cell proliferation, differentiation, migration, and neural circuit formation have been demonstrated to depend on functional primary cilia.
View Article and Find Full Text PDFGenetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.
J Neurol
December 2024
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Article Synopsis
- Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease, with recent connections made between variants in the SPTLC1 gene and both hereditary neuropathy and juvenile ALS.
- The study analyzed genetic data from patients with familial and sporadic ALS to assess the presence and effects of SPTLC1 variants, using techniques like RT-PCR and ddPCR to evaluate splicing and genetic mosaicism.
- A specific SPTLC1 variant was found in a 21-year-old female patient with juvenile ALS, inherited from her asymptomatic father who exhibited a mosaic form of the variant, highlighting the need for further exploration of the clinical implications of such mosaicism.
Individual and molecular risk factors for the development of rheumatoid arthritis.
Wiad Lek
December 2024
DEPARTMENT OF RHEUMATOLOGY, IMMUNOLOGY AND INTERNAL MEDICINE, JAGIELLONIAN UNIVERSITY, POLAND.
Rheumatoid arthritis is a chronic autoimmune disease of the joints of unknown etiopathogenesis. It affects between ~0.5 and 1% of the total population and occurs 2-3 times more often in women than in men.
View Article and Find Full Text PDFOn the Stability of Metastable Monomers to Bias the Supramolecular Polymerization of Naphthalendiimides.
Angew Chem Int Ed Engl
December 2024
Departamento de Química Orgánica, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, Ciudad Universitaria, s/n, 28040-, Madrid, Spain.
Herein, we report the synthesis of the naphthalendiimides (NDIs) 1-3 endowed with peripheral 3,4,5-trialkoxybenzamide units and a variable number of 1,2,3-triazole rings. Both the benzamide units and the triazole rings are able to form six- or seven-membered intramolecularly H-bonded pseudocycles that behave as metastable monomeric units. Whilst freshly prepared solutions of 1-3 afford H-type aggregates, the presence or lack of the 1,2,3-triazole rings strongly conditions the kinetics and stability of the resulting aggregated species.
View Article and Find Full Text PDFComparison of Clinical and Electrophysiologic Characteristics of Peripheral Neuropathy in Progressive Supranuclear Palsy and Parkinson's Disease: An Observational Study.
Ann Indian Acad Neurol
December 2024
Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Background And Objectives: Although widely described in Parkinson's disease (PD), peripheral neuropathy (PNP) is scarcely reported in progressive supranuclear palsy (PSP). We aimed to compare the frequency, clinical and electrophysiologic characteristics of PNP in PSP and PD patients.
Methods: This cross-sectional study included 23 PSP and 93 PD patients.
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