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Article
Open AccessModel matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
In biomedical research, particularly for rare diseases (RDs), there is a critical need for model organisms to unravel the mechanistic basis of diseases, perform biomarker studies and develop potential therapeu...
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Article
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
Despite linkage to chromosome 16q in 1996, the mutation causing spinocerebellar ataxia type 4 (SCA4), a late-onset sensory and cerebellar ataxia, remained unknown. Here, using long-read single-strand whole-gen...
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Article
Open AccessRFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile
The cause of downbeat nystagmus (DBN) remains unknown in a substantial number of patients (“idiopathic”), although intronic GAA expansions in FGF14 have recently been shown to account for almost 50% of yet idiopa...
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Article
Open AccessResequencing the complete SNCA locus in Indian patients with Parkinson’s disease
The genetic loci implicated in familial Parkinson’s disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort...
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Article
Open AccessGenomes in clinical care
In the era of precision medicine, genome sequencing (GS) has become more affordable and the importance of genomics and multi-omics in clinical care is increasingly being recognized. However, how to scale and e...
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Article
Open AccessOverexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease
Braak’s hypothesis states that sporadic Parkinson’s disease (PD) follows a specific progression of pathology from the peripheral to the central nervous system, and this progression can be monitored by detecti...
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Article
Open AccessDetection of circulating cell-free HPV DNA of 13 HPV types for patients with cervical cancer as potential biomarker to monitor therapy response and to detect relapse
HPV-related cervical cancer (CC) is the fourth most frequent cancer in women worldwide. Cell-free tumour DNA is a potent biomarker to detect treatment response, residual disease, and relapse. We investigated t...
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Article
Open AccessTR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease, which belongs to the trinucleotide repeat disease group with a CAG repeat expansion in exon 1 of the ATXN2 gene...
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Article
Open AccessKPNB1 modulates the Machado–Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP
Machado–Joseph disease (MJD) is characterized by a pathological expansion of the polyglutamine (polyQ) tract within the ataxin-3 protein. Despite its primarily cytoplasmic localization, polyQ-expanded ataxin-3...
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Article
Open AccessCalpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17
Spinocerebellar ataxia type 17 (SCA17) is a neurodegenerative disease caused by a polyglutamine-encoding trinucleotide repeat expansion in the gene of transcription factor TATA box-binding protein (TBP). While...
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Article
Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen
Der Erkrankungsbeginn der aktuell über 8000 bekannten „seltenen Erkrankungen“ („orphan diseases“) liegt zumeist im Kindesalter. Die Diagnosestellung in diesem Alter ist herausfordernd, da die Symptome häufig u...
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Article
Open AccessA Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes
Spinocerebellar ataxia type 3 is the most common autosomal dominant inherited ataxia worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a polyglutamine (polyQ)-expansion in the correspo...
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Article
Open AccessAlpha-synuclein research: defining strategic moves in the battle against Parkinson’s disease
With the advent of the genetic era in Parkinson’s disease (PD) research in 1997, α-synuclein was identified as an important player in a complex neurodegenerative disease that affects >10 million people worldwi...
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Article
Open AccessCorrection to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
An amendment to this paper has been published and can be accessed via the original article.
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Article
Open AccessDJ-1 (Park7) affects the gut microbiome, metabolites and the development of innate lymphoid cells (ILCs)
The proper communication between gut and brain is pivotal for the maintenance of health and, dysregulation of the gut-brain axis can lead to several clinical disorders. In Parkinson’s disease (PD) 85% of all p...
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Article
Open AccessA guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...
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Article
Open AccessUnraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia
Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) are responsible for DYT6 dystonia. Until now, more than eighty different mutations in THAP1 gene have been found in patients with primary...
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Article
PET/MRI and genetic intrapatient heterogeneity in head and neck cancers
The relation between functional imaging and intrapatient genetic heterogeneity remains poorly understood. The aim of our study was to investigate spatial sampling and functional imaging by FDG-PET/MRI to descr...
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Article
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We repor...
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Open AccessAuthor Correction: Blunting neuroinflammation with resolvin D1 prevents early pathology in a rat model of Parkinson’s disease
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
