Neuropathology and molecular diagnosis of Synucleinopathies
Synucleinopathies are clinically and pathologically heterogeneous disorders characterized
by pathologic aggregates of α-synuclein in neurons and glia, in the form of Lewy bodies …
by pathologic aggregates of α-synuclein in neurons and glia, in the form of Lewy bodies …
Clinical neurology and epidemiology of the major neurodegenerative diseases
MG Erkkinen, MO Kim… - Cold Spring Harbor …, 2018 - cshperspectives.cshlp.org
Neurodegenerative diseases are a common cause of morbidity and cognitive impairment in
older adults. Most clinicians who care for the elderly are not trained to diagnose these …
older adults. Most clinicians who care for the elderly are not trained to diagnose these …
The role of mitochondria in neurodegenerative diseases: the lesson from Alzheimer's disease and Parkinson's disease
G Monzio Compagnoni, A Di Fonzo, S Corti… - Molecular …, 2020 - Springer
Although the pathogenesis of neurodegenerative diseases is still widely unclear, various
mechanisms have been proposed and several pieces of evidence are supportive for an …
mechanisms have been proposed and several pieces of evidence are supportive for an …
Evidence for α-synuclein prions causing multiple system atrophy in humans with parkinsonism
SB Prusiner, AL Woerman… - Proceedings of the …, 2015 - National Acad Sciences
Prions are proteins that adopt alternative conformations that become self-propagating; the
PrPSc prion causes the rare human disorder Creutzfeldt–Jakob disease (CJD). We report …
PrPSc prion causes the rare human disorder Creutzfeldt–Jakob disease (CJD). We report …
Multiple-system atrophy
Multiple-system atrophy is a neurodegenerative disease characterized by progressive
autonomic failure, parkinsonism, and cerebellar and pyramidal tract symptoms. Glial …
autonomic failure, parkinsonism, and cerebellar and pyramidal tract symptoms. Glial …
[HTML][HTML] The function of α-synuclein
JT Bendor, TP Logan, RH Edwards - Neuron, 2013 - cell.com
Human genetics has indicated a causal role for the protein α-synuclein in the pathogenesis
of familial Parkinson's disease (PD), and the aggregation of synuclein in essentially all …
of familial Parkinson's disease (PD), and the aggregation of synuclein in essentially all …
A novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology
P Pasanen, L Myllykangas, M Siitonen, A Raunio… - Neurobiology of …, 2014 - Elsevier
We describe the clinical, neuropathological, and genetic features of a Finnish patient with a
novel α-synuclein (SNCA) mutation A53E. The patient was clinically diagnosed with atypical …
novel α-synuclein (SNCA) mutation A53E. The patient was clinically diagnosed with atypical …
Mitochondrial dysfunction in inherited renal disease and acute kidney injury
Mitochondria are increasingly recognized as key players in genetic and acquired renal
diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …
diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
S Ashraf, HY Gee, S Woerner, LX **e… - The Journal of …, 2013 - Am Soc Clin Investig
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has
furthered the understanding of the pathogenesis of this disease. Here, using a combination …
furthered the understanding of the pathogenesis of this disease. Here, using a combination …
Progress in unraveling the genetic etiology of Parkinson disease in a genomic era
A Verstraeten, J Theuns, C Van Broeckhoven - Trends in Genetics, 2015 - cell.com
Parkinson disease (PD) and Parkinson-plus syndromes are genetically heterogeneous
neurological diseases. Initial studies into the genetic causes of PD relied on classical …
neurological diseases. Initial studies into the genetic causes of PD relied on classical …