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A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage
A rescue factor abolishing neuronal cell death by a wide spectrum of familial Alzheimer's disease genes and Aβ
TLDR
A gene is identified, designated Humanin (HN) cDNA, which encodes a short polypeptide and abolishes death of neuronal cells caused by multiple different types of familial Alzheimer's disease genes and by Aβ amyloid, without effect on death by Q79 or superoxide dismutase-1 mutants.
Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients.
TLDR
The interval from initial symptom to combined motor and autonomic dysfunction can predict functional deterioration and survival in MSA, and the relationship between atrophy and functional status was highly variable among the individuals, suggesting that other factors influenced the functional deterioration.
CREB-binding protein sequestration by expanded polyglutamine.
TLDR
Evidence is presented that CREB-binding protein (CBP), a transcriptional co-activator that orchestrates nuclear response to a variety of cell signaling cascades, is incorporated into nuclear inclusions formed by polyglutamine-containing proteins in cultured cells, transgenic mice and tissue from patients with SBMA.
The wide spectrum of clinical manifestations in Sjögren's syndrome-associated neuropathy.
TLDR
Clinopathological observations suggest that sensory ataxic, painful and perhaps trigeminal neuropathy are related to ganglioneuronopathic process, whereas multiple mononeuropathy and multiple cranial neuropathy would be more closely associated with vasculitic process.
Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.
TLDR
Investigating the natural course of SBMA as assessed by nine activities of daily living (ADL) milestones in 223 Japanese SBMA patients found the levels of serum testosterone, an important triggering factor for polyglutamine-mediated motoneuron degeneration, were maintained at relatively high levels even at advanced ages.
Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.
Familial amyloid polyneuropathy (FAP) was once considered a disease peculiar to endemic areas, but it is now recognized not to be a rare disease among hereditary neuropathic disorders in Japan. FAP
Retinoic-acid-concentration-dependent acquisition of neural cell identity during in vitro differentiation of mouse embryonic stem cells.
TLDR
It is suggested that the concentration of RA strictly and simultaneously regulates the neuralization and positional specification during differentiation of mouse ES cells and that it may be possible to use it to establish a strategy for controlling the identity of ES-cell-derived neural cells.
Spliceosome integrity is defective in the motor neuron diseases ALS and SMA
TLDR
It is shown that TDP‐43 and FUS/TLS localize in nuclear Gems through an association with SMN, and that all three proteins function in spliceosome maintenance, indicating that a profound loss of spliceOSome integrity is a critical mechanism common to neurodegeneration in ALS and SMA and may explain cell‐type specific vulnerability of motor neurons.
Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions
TLDR
The analysis revealed that FUS regulates alternative splicing events and transcriptions in a position-dependent manner and binding of FUS to the promoter antisense strand downregulates transcriptions of the coding strand.
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