Parkin mutations in familial and sporadic Parkinson's disease among Indians.
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Summary
A mutation frequency of 8.5% in Parkin gene among Indian PD patients is observed based on sequencing and gene dosage analysis of its exons and seven point mutations of which seven are novel and hitherto unreported are identified.
- Type
- article
- Published
- 2006-05-01
- Cited by
- 55
- References
- 35
- OpenAlex
- https://openalex.org/W16500134
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:31042880
Keywords
Lemma (botany), Mathematics, Banach space, Eberlein–Šmulian theorem, Rigidity (electromagnetism)
References
- Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
- The ubiquitin pathway in Parkinson's disease
- DJ-1 mutations in Parkinson's disease.
- Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
- A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2–q13.1
- Single-nucleotide polymorphisms in the promoter region of the PARKIN gene and Parkinson's disease.
- A susceptibility locus for Parkinson's disease maps to chromosome 2p13
- Significant linkage of Parkinson disease to chromosome 2q36-37.
- Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.
- Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
- Mutation Screening and Association Analysis of the Parkin Gene in Parkinson’s Disease Patients from South-West China
- DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
- Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.
- NR4A2 mutations are rare among European patients with familial Parkinson's disease
- Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
- Parkin mutations are rare in patients with young-onset parkinsonism in a US population.
- Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
- Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
- Association study of Parkin gene polymorphisms with idiopathic Parkinson disease.
- Persistent movement disorders following Japanese encephalitis
Cited by
- Parkinson's disease: genetics and beyond.
- Occurrence of PARK2 Mutations in a Never-Smoker Population with Parkinson’s Disease in North India
- Bases moléculaires de la maladie de Parkinson
- Differences between familial and sporadic Parkinson's disease.
- Basi molecolari del morbo di Parkinson
- Role of polymorphisms in dopamine synthesis and metabolism genes and association of DBH haplotypes with Parkinson's disease among North Indians
- Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients.
- Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease.
- Impact of Autosomal Recessive Juvenile Parkinson’s Disease Mutations on the Structure and Interactions of the Parkin Ubiquitin-like Domain
- Parkin dosage mutations in patients with early-onset sporadic and familial Parkinson's disease in Chinese: an independent pathogenic role.
- Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update
- Lower prevalence of sleep disturbances in familial versus sporadic Parkinson's disease: a questionnaire based study.
- Molecular biology research in neuropsychiatry: India’s contribution
- Movement disorders: Indian scenario: a clinico-genetic review.
- Evaluation of PARKIN gene variants in West Bengal Parkinson’s disease patients
- Genetic screening reveals high frequency of PARK2 mutations and reduced Parkin expression conferring risk for Parkinsonism in North West India
- Parkinson’s Disease in Saudi Patients: A Genetic Study
- Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism
- Research in Parkinson's disease in India: A review
- Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism
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