A5045900340- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- Glycogen Storage Diseases and Myoclonus
- Acute Ischemic Stroke Management
- Amyotrophic Lateral Sclerosis Research
- Intracranial Aneurysms: Treatment and Complications
- DNA Repair Mechanisms
- Cerebrovascular and genetic disorders
- Hedgehog Signaling Pathway Studies
- Hereditary Neurological Disorders
- Neurological and metabolic disorders
- Neurogenetic and Muscular Disorders Research
- Intracerebral and Subarachnoid Hemorrhage Research
- Genetic and Kidney Cyst Diseases
- Microtubule and mitosis dynamics
- Pharmacological Effects and Toxicity Studies
- Extracellular vesicles in disease
- RNA Research and Splicing
- Hops Chemistry and Applications
- Cancer Cells and Metastasis
- Neurosurgical Procedures and Complications
- Neurological diseases and metabolism
- Calpain Protease Function and Regulation
- Vestibular and auditory disorders
Biogipuzkoa Health Research Institute
2020-2025
University College London
2023-2025
Biomedical Research Networking Center on Neurodegenerative Diseases
2023-2025
Instituto de Salud Carlos III
2023-2025
Montreal Neurological Institute and Hospital
2025
McGill University
2025
Centro de Investigación Biomédica en Red
2024-2025
Universidad de Deusto
2024-2025
National Hospital for Neurology and Neurosurgery
2023-2025
Osakidetza
2021-2024
Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; 27B). Molecular confirmation has thus far mostly relied on long-read sequencing, technology that is not yet widely available clinical laboratories. We developed and validated strategy to detect using long-range PCR, bidirectional repeat-primed PCRs, Sanger sequencing. compared this targeted nanopore sequencing cohort 22 French Canadian patients next it 53 index with unsolved...
Intronic FGF14 GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-FGF14 ataxia; SCA27B). The global epidemiology and regional prevalence this newly reported disorder remain established. In study, we investigated the frequency GAA-FGF14 in large cohort Brazilian patients with unsolved adult-onset ataxia.We recruited 93 index genetically despite extensive genetic investigation genotyped locus. Patients were across 4 different regions Brazil.Of...
Abstract Background and purpose Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 ( FGF14 ) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B). We aimed study frequency phenotype of SCA27B a cohort patients with unsolved late‐onset cerebellar (LOCA). also assessed relative other genetically defined LOCAs. Methods recruited consecutive series 107 LOCA, whom 64 remained undiagnosed. screened these for expansion. next analysed forms LOCA...
Abstract A pathogenic GAA repeat expansion in the first intron of fibroblast growth factor 14 gene ( FGF14 ) has been recently identified as cause spinocerebellar ataxia 27B (SCA27B). We herein screened 160 Greek index cases with late‐onset cerebellar (LOCA) for expansions using a combination long‐range PCR and bidirectional repeat‐primed PCRs. 19 (12%) carrying expansion, diagnostic yield higher than that previously repeat‐expansion ataxias LOCA patients. The age at onset SCA27B patients...
Abstract RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous terms of age onset, disease progression and phenotype. We investigated the role size influencing clinical variables disease. also assessed presence meiotic somatic instability repeat. In this study, we identified 553 patients carrying expansions measured 392 cases. Pearson’s coefficient was calculated to assess correlation between at onset. A Cox model with robust cluster standard errors adopted...
GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset caused by GAA repeat expansion in intron 1 of the FGF14 gene. After clinical observation superior cerebellar peduncle (SCP) involvement some affected patients, we sought to verify prevalence this finding our cohort and 4 additional independent cohorts patients with SCA27B. We performed retrospective review brain MRI scans total 87 (median age at 69 years; range 28-88 years) from different assess presence SCP involvement, defined as...
Abstract Alterations in RNA-splicing are a molecular hallmark of several neurological diseases, including muscular dystrophies, where mutations genes involved RNA metabolism or characterized by alterations splicing have been described. Here, we present five patients from two unrelated families with limb-girdle dystrophy (LGMD) phenotype carrying biallelic variant SNUPN gene. Snurportin-1, the protein encoded SNUPN, plays an important role nuclear transport small ribonucleoproteins (snRNPs),...
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Abstract Background and purpose Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was characterize p.Leu2286Val variant 17 Basque patients, accurately determine its correlation clinical features explore possible founder effect variant. Methods Families harbouring p.Leu2286 underwent detailed evaluation, including muscle magnetic resonance imaging, electromyography biopsy. Haplotypes were...
Aging CellVolume 24, Issue 1 e14480 ADDITIONAL COVEROpen Access Additional Cover Nathalie Launay, LaunaySearch for more papers by this authorMaria Espinosa-Alcantud, Maria Espinosa-AlcantudSearch authorEdgard Verdura, Edgard VerduraSearch authorGorka Fernández-Eulate, Gorka Fernández-EulateSearch authorJon Ondaro, Jon OndaroSearch authorPablo Iruzubieta, Pablo IruzubietaSearch Marsal, MarsalSearch authorAgatha Schlüter, Agatha SchlüterSearch authorMontserrat Ruiz, Montserrat RuizSearch...
Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little known about calpain 3 (CAPN3) function muscle, but its loss results aberrant sarcomere formation. Human structure was analyzed this study, with observed integrin β1D isoform (ITGβ1D) mislocalization, a lack of talin 1 (TLN1) sarcolemma, and irregular expression Focal Adhesion Kinase (FAK) LGMDR1 muscles suggesting activation an altered extracellular...
Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little known about CAPN3’s function muscle, but its loss results aberrant sarcomere formation. Human structure was analyzed this study, with observations including integrin β1D isoform (ITGβ1D) mislocalization, a lack of Talin-1 (TLN1) sarcolemma and irregular expression focal adhesion kinase (FAK) LGMDR1 muscles, suggesting activation an altered sarcolemma,...
Abstract Partial phenotypic overlap has been suggested between multiple system atrophy (MSA) and spinocerebellar ataxia 27B, the autosomal dominant caused by an intronic GAA•TTC repeat expansion in FGF14. This study investigated frequency of FGF14 clinically diagnosed pathologically confirmed cases. We screened 657 cases (193 464 confirmed) 1,003 controls. The locus was genotyped using long-range PCR bidirectional repeat-primed PCRs, expansions were with targeted long-read Oxford Nanopore...
Abstract Cancer progression and its impact on treatment response prognosis is deeply regulated by tumour microenvironment (TME). cells are in constant communication modulate TME through several mechanisms, including transfer of tumour-promoting cargos extracellular vesicles (EVs) or oncogenic signal detection primary cilia. Spheresomes a specific EV that arise from rough endoplasmic reticulum–Golgi vesicles. They accumulate beneath cell membrane released to the medium multivesicular spheres....
ABSTRACT Many proteins linked to amyotrophic lateral sclerosis and fronto-temporal dementia (ALS-FTD) change their cellular location coalesce in cytoplasmic inclusion bodies the disease state; yet factors that govern protein relocation organization remain unclear. Here, we show inhibition of glycolysis mitochondrial synthesis causes many involved ALS-FTD location, form a novel structure comprising ring stress granules encircling aggresome, focal microtubule-based beside nucleus. A...