A5082926575- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Amyotrophic Lateral Sclerosis Research
- Neurological disorders and treatments
- RNA regulation and disease
- Hereditary Neurological Disorders
- Cardiac, Anesthesia and Surgical Outcomes
- Intensive Care Unit Cognitive Disorders
- Intraoperative Neuromonitoring and Anesthetic Effects
- Genomics and Rare Diseases
- Nerve injury and regeneration
- Genetic Neurodegenerative Diseases
- Peripheral Neuropathies and Disorders
- ATP Synthase and ATPases Research
- Neurogenetic and Muscular Disorders Research
- Dysphagia Assessment and Management
- Genetics, Aging, and Longevity in Model Organisms
- Ocean Acidification Effects and Responses
- Myasthenia Gravis and Thymoma
- Biochemical Acid Research Studies
- Neuroscience and Neural Engineering
- RNA and protein synthesis mechanisms
- Genomics and Chromatin Dynamics
- Alzheimer's disease research and treatments
Hospital for Special Surgery
2013-2025
Cornell University
2012-2025
Weill Cornell Medicine
2021-2025
NewYork–Presbyterian Hospital
2015-2021
New York Hospital Queens
2015-2021
Presbyterian Hospital
2021
Icahn School of Medicine at Mount Sinai
2011
The Neurological Institute
2011
Columbia University Irving Medical Center
2011
Columbia University
1997-2000
Our objective was to analyze gene expression pattern in muscles from patients with amyotrophic lateral sclerosis (ALS) and multifocal motor neuropathy (MMN) compared controls. Biopsied skeletal three ALS, MMN control subjects had total RNA extracted subjected genome-wide analysis using Affymetrix GeneChip Exon 1.0 ST array. The most significant differences were confirmed RT-PCR four additional ALS patients. Results showed that over 3000 genes identified across the groups q < 10%. Among 50...
In an unprecedented finding, Davis et al. [Davis, R. E., Miller, S., Herrnstadt, C., Ghosh, S. Fahy, Shinobu, L. A., Galasko, D., Thal, J., Beal, M. F., Howell, N. & Parker, W. Jr. (1997) Proc. Natl. Acad. Sci. USA 94, 4526–4531] used unusual DNA isolation method to show that healthy adults harbor a specific population of mutated mitochondrial cytochrome c oxidase ( COX ) genes coexist with normal mtDNAs. They reported this heteroplasmic was present at level 10–15% in the blood...
The diagnosis of amyotrophic lateral sclerosis (ALS) and primary (PLS) is often difficult because a lack disease biomarkers. purpose this study was to investigate quantitative susceptibility mapping (QSM) the motor cortex as potential biomarker for ALS PLS.From retrospective database, QSM images 16 patients with upper neuron (nine men [56%], seven women; mean age, 56.3 years; 12 ALS, four PLS) 23 control (13 10 56.6 years) were reviewed. Two neuroradiologists, blinded diagnosis,...
We describe a new mitochondrial DNA mutation in the cytochrome b gene patient presenting with progressive exercise intolerance and myoglobinuria associated complex III deficiency muscle. The point results replacement of glycine at amino acid position 190 stop codon. This change predicts premature termination translation, leading to truncated protein missing 244 acids C-terminus b. fulfills all accepted criteria for pathogenicity, suggesting that this is primary cause myopathy patient. Ann...
A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to substitution highly conserved amino acid (G339E), was heteroplasmic (85%) patient's not present 100 individuals different ethnic backgrounds. These data strongly suggest that this molecular defect is primary cause myopathy.
Abstract Background and Purpose Excessive brain iron deposition is involved in Parkinson's disease (PD) pathogenesis. However, the correlation of accumulation various nuclei not well‐established different stages disease. This cross‐sectional study aims to evaluate quantitative susceptibility mapping (QSM) as an imaging technique measure PD patients compared healthy controls. Methods Ninety‐six grouped by their Hoehn Yahr (H&Y) 31 controls were included this analysis. The magnetic values...
Background: All the processes leading to neurodegeneration cannot be addressed with just one medication. Combinations of drugs affecting various disease mechanisms concurrently could demonstrate improved effect in slowing course Parkinson’s (PD). Objective: This was a drug-repurposing experiment designed assess several combinations nine for possible added or synergistic efficacy using vitro models PD. Methods: We evaluated 44 medications (sodium phenylbutyrate, terazosin, exenatide,...
We identified a G→A transition at nt-8363 in the mitochondrial DNA transfer ribonucleic acid Lys gene blood and muscle from 13-month-old girl who had clinical neuroradiologic evidence of Leigh syndrome died age 27 months. The mutation was less abundant same tissues patient's mother, developed myoclonus epilepsy with ragged red fibers (MERRF) her late 20s. In both mother daughter, histochemistry showed cytochrome c oxidase-negative biochemical analysis partial defects multiple...
This study aimed to evaluate different combinations of three dietary supplements for potential additive or synergistic effects in an vitro Parkinson’s Disease model. The complex and diverse processes leading neurodegeneration each patient with a neurodegenerative disorder cannot be effectively addressed by single medication. Instead, various potentially neuroprotective agents targeting disease mechanisms simultaneously may show improved efficacy slowing the progression allowing utilized at...
The HIRA family of genes (named after yeast HIR genes; is an acronym for `histone regulator') includes the HIR1 and HIR2 repressors histone gene transcription in S. cerevisiae, human TUPLE-1/HIRA, chicken HIRA, mouse HIRA. Here, we describe a new member family, Dhh, Drosophila homolog . Northern analysis with poly (A)+ mRNA isolated from different developmental stages melanogaster shows hybridization single Dhh transcript 4.1 kb. Hybridization strong female adults, unfertilized eggs...
A novel A7543G mutation was found in the mitochondrial DNA transfer ribonucleic acid Asp gene an 11-year-old girl with myoclonic seizures, developmental delay, and severe behavioral problems. Muscle histochemistry failed to show any ragged red fibers or cytochrome c oxidase-negative fibers, muscle biochemistry showed partial oxidase deficiency. The heteroplasmic muscle, fibroblasts, blood from patient other affected family members, proportion of mutant correlated severity symptoms. (J Child...
OBJECTIVE: To explore quantitative susceptibility mapping (QSM), a novel MRI technique, which quantitatively determines tissue susceptibility, primarily determined by iron content, in the motor cortex of patients with C9orf72 familial Amyotrophic Lateral Sclerosis (ALS) and controls. BACKGROUND: ALS is disease characterized progressive degeneration both upper lower neurons (UMN/LMN). There are no biomarkers for ALS. QSM has potential utility as biomarker UMN dysfunction. sensitive method to...
We evaluate quantitative susceptibility mapping (QSM) as an MRI technique to measure brain iron accumulation in Parkinson's disease (PD) patients different stages compared healthy controls.