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001			100902
003			ESmaUEC
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007			cr nn nnnaamaa
008			180618s2018 gw | s |||| 0|eng d
020			_a9783319896892 _9
024	7		_a10.1007/978-3-319-89689-2 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC
050		4	_aRC321 2018 EB
245	1	0	_aRNA Metabolism in Neurodegenerative Diseases _cedited by Rita Sattler, Christopher J. Donnelly.
264		1	_aCham, Switzerland _bSpringer International Publishing _c2018
300			_a1 recurso en línea (XX, 310 páginas 34 ilustraciones a color)
336			_aTexto _btxt _2rdacontent
347			_atext file _bPDF _2
490	0		_aAdvances in Neurobiology _x2190-5215 _v20
505	0		_aRNA Metabolism in Neurodegenerative Diseases -- Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes -- RNA Editing Deficiency in Neurodegeneration -- RNA Nucleocytoplasmic Transport Defects in Neurodegenerative Diseases -- RNA Degradation in Neurodegenerative Disease -- RNP Assembly Defects in Spinal Muscular Atrophy -- Stress Granules and ALS: A Case of Causation or Correlation? -- Deregulation of RNA Metabolism in Microsatellite Expansion Diseases -- Mechanisms Associated with TDP-43 Neurotoxicity in ALS/FTLD -- Senataxin, a Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration -- Lost in Translation - Evidence for Protein Synthesis Deficits in ALS/FTD and Related Neurodegenerative Diseases.
520	3		_aIt has become evident over the last years that abnormalities in RNA processing play a fundamental part in the pathogenesis of neurodegenerative diseases. Cellular viability depends on proper regulation of RNA metabolism and subsequent protein synthesis, which requires the interplay of many processes including transcription, pre‐mRNA splicing, mRNA editing as well as mRNA stability, transport and translation. Dysfunction in any of these processes, often caused by mutations in the coding and non‐coding RNAs, can be very destructive to the cellular environment and consequently impair neural viability. The result of this RNA toxicity can lead to a toxic gain of function or a loss of function, depending on the nature of the mutation. For example, in repeat expansion disorders, such as the newly discovered hexanucleotide repeat expansion in theC9orf72 gene found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), a toxic gain of function leads to the formation of RNA foci and the sequestration of RNA binding proteins (RBPs). This in return leads to a loss of function of those RBPs, which is hypothesized to play a significant part in the disease progression of ALS and FTD. Other toxicities arising from repeat expansions are the formation of RNA foci, bi‐directional transcription and production of repeat associated non‐ATG (RAN) translation products. This book will touch upon most of these disease mechanisms triggered by aberrant RNA metabolism and will therefore provide a broad perspective of the role of RNA processing and its dysfunction in a variety of neurodegenerative disorders, including ALS, FTD, Alzheimer's disease, Huntington's disease, spinal muscular atrophy, myotonic dystrophy and ataxias. The proposed authors are leading scientists in the field and are expected to not only discuss their own work, but to be inclusive of historic as well as late breaking discoveries. The compiled chapters will therefore provide a unique collection of novel studies and hypotheses aimed to describe the consequences of altered RNA processing events and its newest molecular players and pathways.
650		7	_aNeurociencias _2embne _9158907
700	1		_aSattler, Rita _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _1http://viaf.org/viaf/25550255
700	1		_aDonnelly, Christopher J _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _1http://viaf.org/viaf/715154329446626970008
710	2		_aSpringerLink (Online service) _0http://id.loc.gov/authorities/names/no2005046756 _1http://viaf.org/viaf/148105729 _9106996
776	0	8	_iEdición impresa: _z9783319896885
776	0	8	_iEdición impresa: _z9783319896908
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-319-89689-2 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
490	0		_aBiomedical and Life Sciences (Springer-11642)
942			_2lcc
988			_aEBSPRINGER_2018
998			_aSI _b02/2019 _cm _dz _ep _feng _ggw _h0
999			_c100902 _d100902 _x1