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Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin
(Impact Journals, 2020-04-15)
Myotonic dystrophy type 1 (DM1; MIM #160900) is an autosomal dominant disorder, clinically characterized by progressive muscular weakness and multisystem degeneration. The broad phenotypes observed in patients with DM1 ...
Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement
(Cell Press, 2022-06-17)
Mutations in LRRK2 increase its kinase activity and cause Parkinson's disease. LRRK2 phosphorylates a subset of Rab proteins which allows for their binding to RILPL1. The phospho-Rab/RILPL1 interaction causes deficits in ...
Targeting Myotonic Dystrophy Type 1 with Metformin
(MDPI, 2022-03)
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder of genetic origin. Progressive muscular weakness, atrophy and myotonia are its most prominent neuromuscular features, while additional clinical manifestations in ...
Metabolic Alterations in Plasma from Patients with Familial and Idiopathic Parkinson's Disease
(Impact Journals LLC, 2020-09-15)
The research of new biomarkers for Parkinson's disease is essential for accurate and precocious diagnosis, as well as for the discovery of new potential disease mechanisms and drug targets. The main objective of this work ...
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome
(Wiley, 2022-02)
[EN] Objective: To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment. Methods: ...
Dermic-derived fibroblasts for the study of amyotrophic lateral sclerosis
(Wolters Kluwer - Medknow, 2020-11)
Patient-Specific iPSC-Derived Cellular Models of LGMDR1
(Elsevier, 2021-04-08)
Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain ...
Common Variants in Alzheimer’s Disease and Risk Stratification by Polygenic Risk Scores
(Springer, 2021-06-07)
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ...
Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy
(Elsevier, 2021-12-03)
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by expansion of unstable CTG repeats in a non-coding region of the DMPK gene. CUG expansions in mutant DMPK transcripts sequester MBNL1 proteins in ...
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
(Wiley, 2020-01)
Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were performed using patient's DNA sample. RT-PCR and ...