title: DNA Repair Dysfunction and Neurodegeneration: Lessons From Rare Pediatric Disorders.
abstract: Nucleotide excision repair disorders display a wide range of clinical syndromes and presentations, all associated at the molecular level by dysfunction of genes participating in the nucleotide excision repair pathway. Genotype-phenotype relationships are remarkably complex and not well understood. This article outlines neurodegenerative symptoms seen in nucleotide excision repair disorders and explores the role that nucleotide excision repair dysfunction can play in the pathogenesis of chronic neurodegenerative diseases.
authors.affiliation: Montefiore Medical Center, Bronx, NY, USA syedhshabbir@gmail.com.
authors.forename: Syed H
authors.initials: SH
authors.lastname: Shabbir
mesh_terms: D002648:Child; D004260:DNA Repair; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics / Q000378:metabolism; D006801:Humans; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000378:metabolism*; D035583:Rare Diseases / Q000235:genetics* / Q000378:metabolism*; D054463:Trichothiodystrophy Syndromes / Q000235:genetics / Q000378:metabolism; D014983:Xeroderma Pigmentosum / Q000235:genetics / Q000378:metabolism
keywords: Cockayne syndrome; neurodegeneration; nucleotide excision repair; trichothiodystrophy; xeroderma pigmentosum