Publications of Subhajit Giri
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See detailAssociation of TOR1A & GCH1 polymorphisms with isolated dystonia in India
Giri, Subhajit ULiege; Ghosh, Arunibha; Roy, Shubhrajit et al

in Journal of Molecular Neuroscience (2020)

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See detailPrimary generalized dystonia due to TOR1A ΔGAG mutation in an Indian family with intrafamilial clinical heterogeneity.
Giri, Subhajit ULiege; Biswas, Arindam; Das, Shyamal Kumar et al

in Neurology India (2019), 67(3), 872-875

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See detailGeneration of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing.
Giri, Subhajit ULiege; Purushottam, Meera; Viswanath, Biju et al

in Stem Cell Research (2019), 39

Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein ... [more ▼]

Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play important role in synaptic plasticity and translational regulation in neurons. We have generated a homozygous FMR1 knockout (FMR1-KO) hESC line using CRISPR/Cas9 based genome editing. It created a homozygous 280 nucleotide deletion at exon1, removing the start codon. This FMR1-KO cell line maintains stem cell like morphology, pluripotency, normal karyotype and ability to in-vitro differentiation. [less ▲]

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See detailDopamine β Hydroxylase (DBH) is a potential modifier gene associated with Parkinson's disease in Eastern India.
Ghosh, Arunibha; Sadhukhan, Tamal; Giri, Subhajit ULiege et al

in Neuroscience Letters (2019), 706

BACKGROUND: Parkinson's disease (PD) is the debilitating movement disorder, distinguished by dopaminergic and norepinephrinergic neurodegeneration. Apart from candidate gene mutations, several modifier ... [more ▼]

BACKGROUND: Parkinson's disease (PD) is the debilitating movement disorder, distinguished by dopaminergic and norepinephrinergic neurodegeneration. Apart from candidate gene mutations, several modifier loci have been reported to be associated with the disease manifestation. The Dopamine β-Hydroxylase (DBH) maintains cellular dopamine content and regulates dopamine turn over in neurons. Genetic polymorphisms of DBH are associated with PD and are found to alter plasma DBH activity in patients compared to healthy controls. Therefore, DBH activity in plasma could be a potential and easily detectable biomarkers for alteration of dopaminergic neuronal function in PD. METHODS: Plasma DBH activity has been assessed among PD cases and age-matched controls to identify correlation with PD. To elucidate the role of DBH polymorphisms in Eastern Indian PD patients, three SNPs (rs1611115, rs1108580 and rs129882) were selected and screened by PCR-RFLP and DNA sequencing analysis. RESULTS: The T-allele of rs129882 was more prevalent among patients than controls posing risk (p-value = 0.02, OR = 1.404, 95% CI = 1.047-1.883) towards PD. The dual-Luciferase assay in SHSY5Y cell line revealed that the T-allele of rs129882 increases Luciferase signal (p =  0.0269). However, the rs1611115 and rs1108580 did not show association with PD; plasma DBH activity was not significantly different between patients and controls (p-value > 0.05). Haplotypes constructed with three SNPs showed that the CAT haplotype to pose risk, TAC haplotype to provide protection against early disease onset and CGT being protective against non-motor symptoms. CONCLUSION: These data suggest that DBH might influence the susceptibility of PD. [less ▲]

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See detailA Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.
Giri, Subhajit ULiege; Naiya, Tufan; Roy, Shubhrajit et al

in Journal of molecular neuroscience : MN (2019), 68(2), 214-220

Dopa-responsive dystonia (DRD), a movement disorder, is characterized by young onset dystonia and dramatic response to levodopa treatment. However, the wide range of phenotypic spectrum of the disease ... [more ▼]

Dopa-responsive dystonia (DRD), a movement disorder, is characterized by young onset dystonia and dramatic response to levodopa treatment. However, the wide range of phenotypic spectrum of the disease often leads to misdiagnosis. DRD is usually caused by mutation in GCH1 gene coding for GTP cyclohydrolase 1 (GTPCH1) enzyme, which is involved in biosynthesis of tetrahydrobiopterin (BH4) and dopamine. In this study, the entire GCH1 gene was screened in 14 Indian DRD patients and their family members. A family was identified where the proband was found to be a compound heterozygote for GCH1 (p.R184H and p.V204I) variants; the former variant being inherited from the father and the latter from the mother. All other family members harboring one of these GCH1 variants were asymptomatic except for one (heterozygous for p.R184H) who was diagnosed with DRD. In silico analyses predicted these two variants to be pathogenic and disruptive to GCH1enzymatic activity. This proband was misdiagnosed as cerebral palsy and remained untreated for 25 years. He developed retrograde movements and gait problems in lower limbs, deformity in upper limbs, and difficulty in swallowing, and became mute. However, most of his symptoms were alleviated upon levodopa administration. Our study confirms the variability of DRD phenotype and the reduced penetrance of GCH1 mutations. It also emphasizes the need of molecular diagnostic test and L-dopa trial especially for those with atypical DRD phenotype. [less ▲]

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See detailMOLECULAR BASIS OF PATHOGENESIS OF DYSTONIA AMONG INDIAN PATIENTS
Giri, Subhajit ULiege

Doctoral thesis (2018)

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See detailGenetic screening of THAP1 in primary dystonia patients of India.
Giri, Subhajit ULiege; Naiya, Tufan; Equbal, Zaffar et al

in Neuroscience Letters (2017), 637

BACKGROUND: Primary Dystonia is a common movement disorder manifested by dystonic symptoms only. DYT6, a major genetic factor, plays a significant role in primary pure dystonia pathogenesis. In this study ... [more ▼]

BACKGROUND: Primary Dystonia is a common movement disorder manifested by dystonic symptoms only. DYT6, a major genetic factor, plays a significant role in primary pure dystonia pathogenesis. In this study we analyzed THAP1 (DYT 6) gene in primary pure dystonia patients, which has been widely studied in other populations but not in Indians. METHODS: The study cohort contained 227 index primary pure dystonia patients with the involvement of cervical region and 254 neurologically control individuals collected from East Indian population. All three exons of THAP1 and their flanking sequences, including exon-intron boundaries, were screened by PCR, DNA sequencing and/or RFLP analysis. RESULTS: A total of three nucleotide variants were detected, which include a reported missense mutation (c.427 A>G; p.Met143Val) in a juvenile onset generalized dystonia patient, a novel frameshift deletion mutation (c.208-209 ΔAA; p.K70VfsX15) in a juvenile onset cervical dystonia patient and a rare variant in 3' UTR of THAP1 (c.*157 T>C) in an adult-onset blepharospasm patient. In addition, two SNPs (rs71521601 and rs111989331) were detected both in the patients and controls with the major allele of the latter being significantly over represented in the patients. CONCLUSIONS: Our study suggests that the THAP1 is likely to have a causative role in the pathogenesis of Indian primary pure dystonia patients. Though the phenotypic spectrum is extensively diverse, the cervical involvement with dystonic tremor and speech problem is common amongst the patients harboring mutations. [less ▲]

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See detailMolecular basis of DYT1 and DYT6 primary dystonia in Indian patients
Giri, Subhajit ULiege; Biswas, Arindam; Das, Shyamal Kumar et al

in Molecular Cytogenetics (2014, January 21), 7(Supplement 1), 121

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See detailGenetic analysis of TOR1A & THAP1 genes in Indian primary dystonia patients
Giri, Subhajit ULiege; Naiya, Tufan; Das, Shyamal Kumar et al

in Movement Disorders (2014), 29(Supplement 2), 71

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See detailIsolation of a Pseudomonas aeruginosa strain from soil that can degrade polyurethane diol.
Mukherjee, Koushik; Tribedi, Prosun; Chowdhury, Arup et al

in Biodegradation (2011), 22(2), 377-88

Polyurethane diol (PUR-diol), a synthetic polymer, is widely used as a modifier for water-soluble resins and emulsions in wood appliances and auto coatings. Non-biodegradability of polyurethanes (PUR) and ... [more ▼]

Polyurethane diol (PUR-diol), a synthetic polymer, is widely used as a modifier for water-soluble resins and emulsions in wood appliances and auto coatings. Non-biodegradability of polyurethanes (PUR) and PUR-based materials poses a threat to environment that has led scientists to isolate microbes capable of degrading PUR. However, the bio-degradation of PUR-diol has not yet been reported. In this study, we report isolation of a soil bacterium that can survive using PUR-diol as sole carbon source. PUR-diol degradation by the organism was confirmed by thin layer chromatographic analysis of the conditioned medium obtained after the growth wherein a significant reduction of PUR-diol was observed compared to non-inoculated medium. To quantify the PUR-diol degradation, a sensitive assay based on High Performance Thin Layer Chromatography has been developed that showed 32% degradation of PUR-diol by the organism in 10 days. Degradation kinetics showed the maximal depletion of PUR-diol during logarithmic growth of the organism indicating a direct relation between the growth and PUR-diol degradation. Mutagenic study and GC-MS analysis revealed that esterase activity is involved in this degradation event. The ribotyping and metabolic fingerprinting analysis showed that this organism is a strain of Pseudomonous aeruginosa (P. aeruginosa). It has also been observed that this strain is able to degrade Impranil DLN™, a variety of commercially available PUR. Therefore this study identifies a new bacterium from soil that has the potential to reduce PUR-related waste burden and adds a new facet to diverse functional activities of P. aeruginosa. [less ▲]

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