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View article: Optical Genome Mapping of the human reference iPSC line KOLF2.1J reveals new smaller structural variants in neurodevelopmental genes
Optical Genome Mapping of the human reference iPSC line KOLF2.1J reveals new smaller structural variants in neurodevelopmental genes Open
Summary The INDI consortium curated the KOLF2.1J human iPSC line to create a reference cell line for neurological disease modeling. However, despite careful assessments, two separate studies found using SNP arrays identified five structura…
View article: Inactive S. aureus Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in human stem cell model of Parkinson’s disease
Inactive S. aureus Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in human stem cell model of Parkinson’s disease Open
View article: Robust nuclease-dead S. aureus dCas9-mediated alpha-synuclein knockdown in substantia nigra in a humanized mouse model of Parkinson’s disease
Robust nuclease-dead S. aureus dCas9-mediated alpha-synuclein knockdown in substantia nigra in a humanized mouse model of Parkinson’s disease Open
Parkinson’s disease (PD) is becoming increasingly prevalent due to an aging society, which places a substantial disease burden on patients and their families and an annual cost estimated at 52 billion dollars. However, no approved disease …
View article: An Audit on the Uptake of Psychosocial Interventions in a Nationally Accredited Memory Service
An Audit on the Uptake of Psychosocial Interventions in a Nationally Accredited Memory Service Open
Aims The impaired functioning of patients with dementia has economic, social and quality of life implications for individuals, carers and wider society. We audited the provision & uptake of psychosocial interventions to promote the cogniti…
View article: Embryoid Body Cells from Human Embryonic Stem Cells Overexpressing Dopaminergic Transcription Factors Survive and Initiate Neurogenesis via Neural Rosettes in the Substantia Nigra
Embryoid Body Cells from Human Embryonic Stem Cells Overexpressing Dopaminergic Transcription Factors Survive and Initiate Neurogenesis via Neural Rosettes in the Substantia Nigra Open
Transplantation of immature dopaminergic neurons or neural precursors derived from embryonic stem cells (ESCs) into the substantia nigra pars compacta (SNpc) is a potential therapeutic approach for functional restitution of the nigrostriat…
View article: Nuclease-dead S.<i>aureus</i>Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in patient-derived stem cell model of Parkinson’s disease
Nuclease-dead S.<i>aureus</i>Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in patient-derived stem cell model of Parkinson’s disease Open
Parkinson’s disease (PD) is one of the most common neurodegenerative diseases, but no disease modifying therapies have been successful in clinical translation presenting a major unmet medical need. A promising target is alpha-synuclein or …
View article: Automated 384-well SYBR Green Expression Array for Optimization of Human Induced Pluripotent Stem Cell Differentiation
Automated 384-well SYBR Green Expression Array for Optimization of Human Induced Pluripotent Stem Cell Differentiation Open
Cell populations and tissues exhibit unique gene expression profiles, which allow for characterizing and distinguishing cellular subtypes. Monitoring gene expression of cell type-specific markers can indicate cell status such as proliferat…
View article: Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice Open
Background Variants in the mitochondrial complex I assembly factor, NUBPL are associated with a rare cause of complex I deficiency mitochondrial disease. Patients affected by complex I deficiency harboring homozygous NUBPL variants typical…
View article: Human embryonic stem cells overexpressing dopaminergic transcription factors survive and differentiate in the substantia nigra in vivo
Human embryonic stem cells overexpressing dopaminergic transcription factors survive and differentiate in the substantia nigra in vivo Open
Background: Degeneration of dopaminergic neurons in the substantia nigra pars compacta (SNpc) in Parkinson's disease (PD) is responsible for motor and cognitive impairment. Replacing the dopaminergic cell population in the SNpc to restore …
View article: ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10
ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10 Open
View article: ATTCT and ATTCC repeat expansions in the <i>ATXN10</i> gene affect disease penetrance of spinocerebellar ataxia type 10
ATTCT and ATTCC repeat expansions in the <i>ATXN10</i> gene affect disease penetrance of spinocerebellar ataxia type 10 Open
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by an expanded pentanucleotide repeat in the ATXN10 gene. This repeat expansion, when fully penetrant, has a size of 850 to 4500 repeats. It has been shown tha…
View article: Isogenic human SNCA gene dosage induced pluripotent stem cells to model Parkinson’s disease
Isogenic human SNCA gene dosage induced pluripotent stem cells to model Parkinson’s disease Open
View article: Multiplex imaging of human induced pluripotent stem cell-derived neurons with CO-Detection by indEXing (CODEX) technology
Multiplex imaging of human induced pluripotent stem cell-derived neurons with CO-Detection by indEXing (CODEX) technology Open
Background Human induced pluripotent stem cell (iPSC) models have been hailed as a breakthrough for understanding disease and developing new therapeutics. The major advantage of iPSC-derived neurons is that they carry the genetic backgroun…
View article: Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders Open
We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene. While this GBA variant is causative for Gauch…
View article: Protocol for CODEX Fixation Steps and Primary Antibody Staining for Induced Pluripotent Stem Cell-Derived Neurons v1
Protocol for CODEX Fixation Steps and Primary Antibody Staining for Induced Pluripotent Stem Cell-Derived Neurons v1 Open
CO-Detection by indEXing (CODEX) is a powerful technique to complement 'omics' technologies for in-depth phenotype analysis. CODEX allows the detection of 40+ targets in situ at single-cell resolution. This protocol describes the optimizat…
View article: Gene Expression Analysis in Stem Cell-derived Cortical Neuronal Cultures Using Multi-well SYBR Green Quantitative PCR Arrays
Gene Expression Analysis in Stem Cell-derived Cortical Neuronal Cultures Using Multi-well SYBR Green Quantitative PCR Arrays Open
To optimize differentiation protocols for stem cell-based in vitro modeling applications, it is essential to assess the change in gene expression during the differentiation process. This allows controlling its differentiation effici…
View article: The Role of Alpha-Synuclein and Other Parkinson’s Genes in Neurodevelopmental and Neurodegenerative Disorders
The Role of Alpha-Synuclein and Other Parkinson’s Genes in Neurodevelopmental and Neurodegenerative Disorders Open
Neurodevelopmental and late-onset neurodegenerative disorders present as separate entities that are clinically and neuropathologically quite distinct. However, recent evidence has highlighted surprising commonalities and converging feature…
View article: The Role of Alpha-Synuclein And Other Parkinson’s Genes in Neurodevelopmental and Neurodegenerative Disorders
The Role of Alpha-Synuclein And Other Parkinson’s Genes in Neurodevelopmental and Neurodegenerative Disorders Open
Neurodevelopmental and late-onset neurodegenerative disorders present as separate entities that are clinically and neuropathologically quite distinct. However, recent evidence has highlighted surprising commonalities and converging feature…
View article: Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson’s disease
Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson’s disease Open
The “Iowa kindred,” a large Iowan family with autosomal-dominant Parkinson’s disease, has been followed clinically since the 1920s at the Mayo Clinic. In 2003, the genetic cause was determined to be a 1.7 Mb triplication of the alpha-synuc…
View article: LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson’s disease
LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson’s disease Open
Mutations in leucine-rich repeat kinase 2 (LRRK2) are associated with increased risk for developing Parkinson's disease (PD). Previously, we found that LRRK2 G2019S mutation carriers have increased mitochondrial DNA (mtDNA) damage and afte…