全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Pietro Fratta , Adrian M. Isaacs
来源:[J].BMC Medical Genomics(IF 3.466), 2017, Vol.10 (1)Springer
摘要:Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). TDP-43 depletion cause...
作者:Pietro Fratta , Hugo M de Oliveira ...
来源:[J].PLoS ONE(IF 3.73), 2017, Vol.9 (1)DOAJ
摘要:Mutations in TARDBP, encoding Tar DNA binding protein-43 (TDP43), cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Attempts to model TDP43 dysfunction in mice have used knockouts or transgenic overexpressors, which have revealed the difficulties of man...
作者:Pietro Fratta , Nicol Birsa ...
来源:[J].Trends in Neurosciences(IF 13.582), 2020, Vol.43 (1), pp.1-2Elsevier
摘要:Axonal transport is critical for neuronal homeostasis and relies on motor complexes bound to cargoes via specific adaptors. However, the mechanisms responsible for the spatiotemporal regulation of axonal transport are not completely understood. A recent study by Liao et al ....
作者:Nicol Birsa , Matthew Peter Bentham , Pietro Fratta
来源:[J].Seminars in Cell and Developmental Biology(IF 6.202), 2019Elsevier
摘要:Abstract(#br)TAR DNA-binding protein of 43 kDa (TDP-43) and fused in sarcoma (FUS) are RNA binding proteins (RBPs) primarily located in the nucleus, and involved in numerous aspects of RNA metabolism. Both proteins can be found to be depleted from the nucleus and accumulated in c...
作者:Pietro Fratta , Abraham Acevedo Arozena ...
来源:[J].Mammalian Genome(IF 2.419), 2019, Vol.30 (7-8), pp.173-191Springer
摘要:Abstract(#br)Neurodegenerative disease encompasses a wide range of disorders afflicting the central and peripheral nervous systems and is a major unmet biomedical need of our time. There are very limited treatments, and no cures, for most of these diseases, including Alzheim...
作者:Pietro Fratta , Toby Collins ...
来源:[J].Neurobiology of Aging(IF 6.166), 2014, Vol.35 (2), pp.443.e1-443.e3Elsevier
摘要:Abstract(#br)Trinucleotide repeat disorders are a heterogeneous group of diseases caused by the expansion, beyond a pathogenic threshold, of unstable DNA tracts in different genes. Sequence interruptions in the repeats have been described in the majority of these disorders and ma...
作者:Pietro Fratta , James M. Polke ...
来源:[J].Neurobiology of Aging(IF 6.166), 2015, Vol.36 (1), pp.546.e1-546.e7Elsevier
摘要:Abstract(#br)An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Although 0–30 hexanucleotide repeats are present in the general population, expansions >500 repeats a...
作者:Pietro Fratta , Richard W Orrell ...
来源:[J].The Lancet Neurology(IF 23.917), 2015, Vol.14 (3), pp.291-301Elsevier
摘要:Summary(#br)C9orf72 hexanucleotide repeat expansions are the most common cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. The clinical presentation is often indistinguishable from classic FTD or ALS, although neuropsychiatric symp...
作者:Pietro Fratta , Katie Sidle ...
来源:[J].Neurobiology of Aging(IF 6.166), 2015, Vol.36 (3), pp.1600.e5-1600.e8Elsevier
摘要:Abstract(#br)The future of genetic diagnostics will see a move toward massively parallel next-generation sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases that would benefit from this prospect. Exploring this idea, we designed a screening p...

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