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Muscle wasting in myotonic dystrophies: a model of premature aging
(Frontiers Research Foundation, 2015-07-09)
Myotonic dystrophy type 1 (DM1 or Steinert's disease) and type 2 (DM2) are multisystem disorders of genetic origin. Progressive muscular weakness, atrophy and myotonia are the most prominent neuromuscular features of these ...
Epitope mapping of antibodies to alpha-synuclein in LRRK2 mutation carriers, idiopathic Parkinson disease patients, and healthy controls
(Frontiers Research Foundation, 2014-07-15)
Alpha-synuclein (Snca) plays a major role in Parkinson disease (PD). Circulating anti-Snca antibodies has been described in PD patients and healthy controls, but they have been poorly characterized. This study was designed ...
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
(Nature Publishing, 2018-09-18)
Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described. ...
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 ...
The MAPT H1 Haplotype Is a Risk Factor for Alzheimer’s Disease in APOE ε4 Non-carriers
(Frontiers Media, 2019-12-04)
An ancestral inversion of 900 kb on chromosome 17q21, which includes the microtubule-associated protein tau (MAPT) gene, defines two haplotype clades in Caucasians (H1 and H2). The H1 haplotype has been linked inconsistently ...
Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study
(Wiley, 2019-12)
Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with ...
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 ...
Expression Profiling Analysis Reveals Key MicroRNA– mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa
(Association Research Vision Ophthalmology, 2018-05)
PURPOSE. The aim of this study was to identify differentially expressed microRNAs (miRNAs) that might play an important role in the etiology of retinal degeneration in a genetic mouse model of retinitis pigmentosa (rd10 ...
Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation
(Biomed Central, 2019-01-23)
Background: Mutations in LRRK2 are a common genetic cause of Parkinson's disease (PD). LRRK2 interacts with and phosphorylates a subset of Rab proteins including Rab8a, a protein which has been implicated in various ...
Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons
(Biomed Central, 2016-11-18)
Background: Mutations in leucine-rich repeat kinase 2 (LRRK2) contribute to both familial and idiopathic forms of Parkinson's disease (PD). Neuroinflammation is a key event in neurodegeneration and aging, and there is ...