Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. (Contributo in volume (capitolo o saggio))

Type

• Prodotto della ricerca (Classe)
• Contributo in volume (capitolo o saggio) (Classe)

Label

• Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. (Contributo in volume (capitolo o saggio)) (literal)

Anno

• 2003-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1159/000072849 (literal)

Alternative label

• Mantuano E.; Veneziano L.; Jodice C.; Frontali M. (2003)
  Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.
  in Nucleotide and Protein Expansions and Human Disease, 2003
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Mantuano E.; Veneziano L.; Jodice C.; Frontali M. (literal)

Pagina inizio

• 147 (literal)

Pagina fine

• 153 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#altreInformazioni

• una monografia dal titolo Nucleotide and Protein Expansions and Human Disease a cui abbiamo contribuito con una review (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://www.karger.com/Journal/Issue/229508 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#titoloVolume

• Nucleotide and Protein Expansions and Human Disease (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 100 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#volumeInCollana

• ISSN: 0301-0171 (literal)

Rivista

• Cytogenetics and cell genetics (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• INMM - Istituto di neurobiologia e medicina molecolare (literal)

Titolo

• Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#isbn

• 978-3-8055-7621-5 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autoriVolume

• vari (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#curatoriVolume

• Gécz J. · Sutherland G.R. (literal)

Abstract

• DNA repeat expansion is the mutational mechanism in a number of high-profile genetic diseases such as fragile X syndrome, myotonic dystrophy and Huntington's disease. Since the discovery of this mechanism more than a decade ago many new findings have been reported, and the study of repeat expansion has virtually become a sub-specialty of human molecular genetics. This special issue of Cytogenetic and Genome Research reviews numerous aspects of nucleotide repeat expansion, mutations, and the proteins affected, including mechanisms of expansion, the molecular basis of repeat-associated disorders, animal models, and clinical insights. Several papers focus on rare and common fragile sites, discussing in detail what is currently known and evaluating their contribution to human disease. This highly authoritative series of articles written by leading investigators is recommended reading not only to students but also to scientists experienced in human genetics and clinicians dealing with patients suffering from repeat expansion disorders. (literal)
• Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q. SCA6 is associated with small expansions of a CAG repeat at the 3' end of the gene, while point mutations are responsible for its two allelic disorders (Episodic Ataxia type 2 and Familial Hemiplegic Migraine). Genetic, clinical, pathological and pathophysiological data of SCA6 patients are reviewed and compared to those of other SCAs with expanded CAG repeats as well as to those of its allelic channelopathies, with particular reference to Episodic Ataxia type 2. Overall SCA6 appears to share features with both types of disorders, and the question as to whether it belongs to polyglutamine disorders or to channelopathies remains unanswered at present. (literal)

Prodotto di

• ex ME.P05.008.001 / Ormonogenesi e differenziamento tiroideo.Patogenesi delle atassie cerebellari da canalopatie e poliglutammine espanse (ME.P05.008.003) (Modulo)
• Istituto di neurobiologia e medicina molecolare (INMM) (Istituto)

Autore CNR

• LIANA VENEZIANO (Persona)
• ELIDE MANTUANO (Unità di personale interno)
• MARINA FRONTALI (Persona)

Incoming links:

Autore CNR di

• LIANA VENEZIANO (Persona)
• ELIDE MANTUANO (Unità di personale interno)
• MARINA FRONTALI (Persona)

Prodotto

• Istituto di neurobiologia e medicina molecolare (INMM) (Istituto)
• ex ME.P05.008.001 / Ormonogenesi e differenziamento tiroideo.Patogenesi delle atassie cerebellari da canalopatie e poliglutammine espanse (ME.P05.008.003) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Cytogenetics and cell genetics (Rivista)