Bioinformatic perspectives in the neuronal ceroid lipofuscinoses
Jazyk angličtina Země Nizozemsko Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem, přehledy
PubMed
23274885
DOI
10.1016/j.bbadis.2012.12.010
PII: S0925-4439(12)00301-8
Knihovny.cz E-zdroje
- Klíčová slova
- Bioinformatics, Linkage analysis, Neuronal ceroid lipofuscinosis, Next generation sequencing, Topology,
- MeSH
- fenotyp MeSH
- genetická predispozice k nemoci * MeSH
- lidé MeSH
- membránové proteiny genetika MeSH
- mutace genetika MeSH
- neuronální ceroidlipofuscinózy genetika patologie terapie MeSH
- výpočetní biologie * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Názvy látek
- membránové proteiny MeSH
The neuronal ceroid lipofuscinoses (NCLs) are a group of rare genetic diseases characterised clinically by the progressive deterioration of mental, motor and visual functions and histopathologically by the intracellular accumulation of autofluorescent lipopigment - ceroid - in affected tissues. The NCLs are clinically and genetically heterogeneous and more than 14 genetically distinct NCL subtypes have been described to date (CLN1-CLN14) (Haltia and Goebel, 2012 [1]). In this review we will chronologically summarise work which has led over the years to identification of NCL genes, and outline the potential of novel genomic techniques and related bioinformatic approaches for further genetic dissection and diagnosis of NCLs. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.
Citace poskytuje Crossref.org
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
