Search Results - "Zafar, Faria"

LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson's disease by Howlett, Evan H, Jensen, Nicholas, Belmonte, Frances, Zafar, Faria, Hu, Xiaoping, Kluss, Jillian, Schüle, Birgitt, Kaufman, Brett A, Greenamyre, J T, Sanders, Laurie H

“…Mutations in leucine-rich repeat kinase 2 (LRRK2) are associated with increased risk for developing Parkinson's disease (PD). Previously, we found that LRRK2…”
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The Role of Alpha-Synuclein and Other Parkinson's Genes in Neurodevelopmental and Neurodegenerative Disorders by Morato Torres, C Alejandra, Wassouf, Zinah, Zafar, Faria, Sastre, Danuta, Outeiro, Tiago Fleming, Schüle, Birgitt

“…Neurodevelopmental and late-onset neurodegenerative disorders present as separate entities that are clinically and neuropathologically quite distinct. However,…”
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Inactive S. aureus Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in human stem cell model of Parkinson’s disease by Sastre, Danuta, Zafar, Faria, Torres, C. Alejandra Morato, Piper, Desiree, Kirik, Deniz, Sanders, Laurie H., Qi, L. Stanley, Schüle, Birgitt

“…Parkinson’s disease (PD) is one of the most common neurodegenerative diseases, but no disease modifying therapies have been successful in clinical translation…”
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An Audit on the Uptake of Psychosocial Interventions in a Nationally Accredited Memory Service by Winfield, Sarah, Zafar, Faria, Williamson, Tracey, Cooper-Hunt, Michelle

“…Aims The impaired functioning of patients with dementia has economic, social and quality of life implications for individuals, carers and wider society. We…”
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Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice by Cheng, Cheng, Cleak, James, Weiss, Lan, Cater, Heather, Stewart, Michelle, Wells, Sara, Columbres, Rod Carlo, Shmara, Alyaa, Morato Torres, C Alejandra, Zafar, Faria, Schüle, Birgitt, Neumann, Jonathan, Hatchwell, Eli, Kimonis, Virginia

“…Variants in the mitochondrial complex I assembly factor, NUBPL are associated with a rare cause of complex I deficiency mitochondrial disease. Patients…”
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Rad51 and Rad54 promote noncrossover recombination between centromere repeats on the same chromatid to prevent isochromosome formation by Onaka, Atsushi T, Toyofuku, Naoko, Inoue, Takahiro, Okita, Akiko K, Sagawa, Minami, Su, Jie, Shitanda, Takeshi, Matsuyama, Rei, Zafar, Faria, Takahashi, Tatsuro S, Masukata, Hisao, Nakagawa, Takuro

“…Centromeres consist of DNA repeats in many eukaryotes. Non-allelic homologous recombination (HR) between them can result in gross chromosomal rearrangements…”
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Regulation of mitotic recombination between DNA repeats in centromeres by Zafar, Faria, Okita, Akiko K, Onaka, Atsushi T, Su, Jie, Katahira, Yasuhiro, Nakayama, Jun-Ichi, Takahashi, Tatsuro S, Masukata, Hisao, Nakagawa, Takuro

“…Centromeres that are essential for faithful segregation of chromosomes consist of unique DNA repeats in many eukaryotes. Although recombination is…”
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Gene Expression Analysis in Stem Cell-derived Cortical Neuronal Cultures Using Multi-well SYBR Green Quantitative PCR Arrays by Srinivasaraghavan, Vasavi Nallur, Zafar, Faria, Schüle, Birgitt

“…To optimize differentiation protocols for stem cell-based modeling applications, it is essential to assess the change in gene expression during the…”
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Homologous Recombination Contributes to the Repair of DNA Double-Strand Breaks Induced by High-Energy Iron Ions by Zafar, Faria, Seidler, Sara B., Kronenberg, Amy, Schild, David, Wiese, Claudia

“…To test the contribution of homologous recombinational repair (HRR) in repairing DNA damage sites induced by high-energy iron ions, we used (1) HRR-deficient…”
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Isogenic human SNCA gene dosage induced pluripotent stem cells to model Parkinson’s disease by Zafar, Faria, Nallur Srinivasaraghavan, Vasavi, Yang Chen, Max, Alejandra Morato Torres, C., Schüle, Birgitt

“…Alpha-synuclein overexpression and aggregation are critical factors in the pathogenesis of Parkinson’s disease (PD). Clinical cases with alpha-synuclein (SNCA)…”
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Automated 384-well SYBR Green Expression Array for Optimization of Human Induced Pluripotent Stem Cell Differentiation by Chen, Max Y, Heinrich, Laurin, Zafar, Faria, Sedov, Kamilla, Schüle, Birgitt

“…Cell populations and tissues exhibit unique gene expression profiles, which allow for characterizing and distinguishing cellular subtypes. Monitoring gene…”
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Heterochromatin suppresses gross chromosomal rearrangements at centromeres by repressing Tfs1/TFIIS-dependent transcription by Okita, Akiko K., Zafar, Faria, Su, Jie, Weerasekara, Dayalini, Kajitani, Takuya, Takahashi, Tatsuro S., Kimura, Hiroshi, Murakami, Yota, Masukata, Hisao, Nakagawa, Takuro

“…Heterochromatin, characterized by histone H3 lysine 9 (H3K9) methylation, assembles on repetitive regions including centromeres. Although centromeric…”
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ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10 by Morato Torres, C. Alejandra, Zafar, Faria, Tsai, Yu-Chih, Vazquez, Jocelyn Palafox, Gallagher, Michael D., McLaughlin, Ian, Hong, Karl, Lai, Jill, Lee, Joyce, Chirino-Perez, Amanda, Romero-Molina, Angel Omar, Torres, Francisco, Fernandez-Ruiz, Juan, Ashizawa, Tetsuo, Ziegle, Janet, Jiménez Gil, Francisco Javier, Schüle, Birgitt

“…Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by an expanded pentanucleotide repeat in the ATXN10 gene. This repeat…”
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Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson’s disease by Zafar, Faria, Valappil, Ruksana Azhu, Kim, Sam, Johansen, Krisztina K., Chang, Anne Lynn S., Tetrud, James W., Eis, Peggy S., Hatchwell, Eli, Langston, J. William, Dickson, Dennis W., Schüle, Birgitt

“…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,…”
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Embryoid Body Cells from Human Embryonic Stem Cells Overexpressing Dopaminergic Transcription Factors Survive and Initiate Neurogenesis via Neural Rosettes in the Substantia Nigra by Ramos-Acevedo, Rodrigo, Morato-Torres, Carmen Alejandra, Padilla-Godínez, Francisco J, Bernal-Conde, Luis Daniel, Palomero-Rivero, Marcela, Zafar, Faria, Collazo-Navarrete, Omar, Soto-Rojas, Luis O, Schüle, Birgitt, Guerra-Crespo, Magdalena

“…Transplantation of immature dopaminergic neurons or neural precursors derived from embryonic stem cells (ESCs) into the substantia nigra pars compacta (SNpc)…”
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DNA replication machinery prevents Rad52-dependent single-strand annealing that leads to gross chromosomal rearrangements at centromeres by Onaka, Atsushi T., Su, Jie, Katahira, Yasuhiro, Tang, Crystal, Zafar, Faria, Aoki, Keita, Kagawa, Wataru, Niki, Hironori, Iwasaki, Hiroshi, Nakagawa, Takuro

“…Homologous recombination between repetitive sequences can lead to gross chromosomal rearrangements (GCRs). At fission yeast centromeres, Rad51-dependent…”
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Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders by Napolioni, Valerio, Fredericks, Carolyn A, Kim, Yongha, Channappa, Divya, Khan, Raiyan R, Kim, Lily H, Zafar, Faria, Couthouis, Julien, Davidzon, Guido A, Mormino, Elizabeth C, Gitler, Aaron D, Montine, Thomas J, Schüle, Birgitt, Greicius, Michael D

“…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…”
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Gene Expression Analysis in Stem Cell-derived Cortical Neuronal Cultures Using Multi-well SYBR Green Quantitative PCR Arrays by Srinivasaraghavan, Vasavi, Zafar, Faria, Schuele, Birgitt

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Multiplex imaging of human induced pluripotent stem cell-derived neurons with CO-Detection by indEXing (CODEX) technology by Heinrich, Laurin, Zafar, Faria, Morato Torres, C. Alejandra, Singh, Jasmine, Khan, Anum, Chen, Max Yang, Hempel, Cassandra, Nikulina, Nadya, Mulholland, Jonathan, Braubach, Oliver, Schüle, Birgitt

“…BACKGROUNDHuman induced pluripotent stem cell (iPSC) models have been hailed as a breakthrough for understanding disease and developing new therapeutics. The…”
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Early embryonic lethality in complex I associated p.L104PNubpl mutant mice by Cheng, Cheng, Cleak, James, Weiss, Lan, Cater, Heather, Stewart, Michelle, Wells, Sara, Columbres, Rod Carlo, Shmara, Alyaa, Morato Torres, C. Alejandra, Zafar, Faria, Schüle, Birgitt, Neumann, Jonathan, Hatchwell, Eli, Kimonis, Virginia

“…Variants in the mitochondrial complex I assembly factor, NUBPL are associated with a rare cause of complex I deficiency mitochondrial disease. Patients…”
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