Results 81 to 90 of about 14,543 (225)
Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo‐Electron Tomography
Advanced Science, EarlyView.Correlative cryo‐electron tomography in primary cortical neurons and NIID mouse brain tissue reveals that polyG inclusions are interconnected ribbon‐like assemblies rather than canonical amyloid fibrils. Multiple compartment‐specific ribbon states show distinct 26S proteasome accessibility, while cytoplasmic ribbons contact and deform ER‐like ...
Yunwen Qian +12 more
wiley +1 more source
Loss of C9orf72 decreases mTOR activation. [PDF]
, 2016 A) Immunoblot analysis of mTOR activity after starvation and amino acid stimulation. HEK293T cells were transfected with control or C9orf72 shRNA for 72 hours before treatment.
Justin Chu (732152) +8 more
core +1 more source
Psychiatric Symptoms in Amyotrophic Lateral Sclerosis: Beyond a Motor Neuron Disorder
Frontiers in Neuroscience, 2019 The historical view that Amyotrophic Lateral Sclerosis (ALS) as a pure motor disorder has been increasingly challenged by the discovery of cognitive and behavioral changes in the spectrum of Frontotemporal Dementia (FTD).
Elisabetta Zucchi +3 more
doaj +1 more source
Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture.
PLoS Biology, 2021 A major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum disorder is the hexanucleotide G4C2 repeat expansion in the first intron of the C9orf72 gene.
Julia Nörpel +7 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Background Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and phenotypic profiles of a large
Prashanth Lingappa Kukkle +31 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo +10 more
wiley +1 more source
C9orf72 and SMCR8 form a stable protein complex. [PDF]
, 2016 A) Schematic representation of SILAC mass spectrometry screen for C9orf72 interacting proteins. Metabolically labeled HEK293T cells expressing Flag-tagged C9orf72 Isoform A (heavy) or non-transfected control cells (light) were incubated with anti-Flag ...
Justin Chu (732152) +8 more
core +1 more source
Muscle‐Specific Kinase Signaling and Its Therapeutic Potential
Muscle &Nerve, EarlyView.ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen +2 more
wiley +1 more source
Acta Neuropathologica Communications, 2019 The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained.
Dennis W. Dickson +22 more
doaj +1 more source
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source