A5012155056- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Sphingolipid Metabolism and Signaling
- RNA modifications and cancer
- Microtubule and mitosis dynamics
- RNA Research and Splicing
- Toxin Mechanisms and Immunotoxins
- Mitochondrial Function and Pathology
- Glycosylation and Glycoproteins Research
- Insect Pest Control Strategies
- Congenital Anomalies and Fetal Surgery
- Zebrafish Biomedical Research Applications
- Neurobiology and Insect Physiology Research
- Erythrocyte Function and Pathophysiology
- Autophagy in Disease and Therapy
- Cellular transport and secretion
- Lipid Membrane Structure and Behavior
- Food Science and Nutritional Studies
- Toxoplasma gondii Research Studies
- Plant tissue culture and regeneration
Emory University
2022-2025
Georgia State University
2020
Institut d'Investigació Biomédica de Bellvitge
2019
Centre for Biomedical Network Research on Rare Diseases
2019
Instituto de Salud Carlos III
2019
Indian Institute of Advanced Research
2013
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting myelin sheath. We have used whole-exome sequencing patients with undetermined leukoencephalopathies to uncover endoplasmic reticulum lipid desaturase DEGS1 as causative gene 19 from 13 unrelated families. Shared features among cases include severe motor arrest, early nystagmus, dystonia, spasticity, and profound failure thrive. MRI showed hypomyelination, thinning corpus callosum, progressive thalamic...
GGGGCC (G 4 C 2 ) hexanucleotide repeat expansion in the C9ORF72 gene is most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The bidirectionally transcribed confers gain toxicity. However, underlying toxic species debated, it not clear whether antisense CCCCGG (C G expanded RNAs contribute to disease pathogenesis. Our study shows that trigger activation PKR/eIF2α-dependent integrated stress response independent dipeptide proteins are produced...
KIF5A (Kinesin family member 5A) is a motor protein that functions as key component of the axonal transport machinery. Variants in are linked to several neurodegenerative diseases, mainly spastic paraplegia type 10 (SPG10), Charcot-Marie-Tooth disease 2 (CMT2), and amyotrophic lateral sclerosis (ALS). These diseases share neuron involvement but vary significantly clinical presentation, severity, progression. variants categorized into N-terminal associated with SPG10/CMT2 C-terminal ALS. This...
Abstract Mutations in the human SPTLC1 gene have recently been linked to early onset amyotrophic lateral sclerosis (ALS), characterized by global atrophy, motor impairments, and symptoms such as tongue fasciculations. All known ALS - mutations cluster within exon 2 a specific variant, c.58G>T, results skipping. However, it is unclear how deletion affects function vivo contributes pathogenesis. Leveraging high genomic sequence similarity between mouse , we created novel model with...
AbstractVinca rosea is a plant renowned for its medicinal value, belonging to the family Apocynaceae. Traditionally, leaf juice of V. used treatment various diseases. In present study, effect extract on development Drosophila melanogaster has been investigated. Different concentrations (1%–12%) have used, and feeding flies with food mixed resulted in significant developmental delay, several phenotypic anomalies such as larval/pupal lethality, eye defects, wing reduction body size. Further,...
Abstract Mutations in the human kinesin family member 5A ( KIF5A ) gene were recently identified as a genetic cause of amyotrophic lateral sclerosis (ALS). Several ALS variants exon 27 skipping and produce motor proteins with an altered C-terminal tail (referred to ΔExon27). However, underlying pathogenic mechanism is still unknown. In this study, we performed comprehensive analysis ΔExon27 at single-molecule, cellular, organism levels. Our results show that prone form cytoplasmic aggregates...
Abstract GGGGCC (G 4 C 2 ) hexanucleotide repeat expansion in the C9orf72 gene is most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The bidirectionally transcribed confers gain toxicity. However, underlying toxic species debated, it not clear whether antisense CCCCGG (C G expanded RNAs contribute to disease pathogenesis. Our study shows that trigger activation PKR/eIF2α-dependent integrated stress response independent dipeptide proteins are...
Objectives: Leukodystrophies (LD) is a heterogeneous group of neurogenetic disorders that primarily affect the brain’s white matter. Despite progress in clinico-MRI (magnetic resonance imaging) classification and genomics, many cases remain unexplained with an unknown biochemical or molecular basis. Our objective was to identify genes involved ultrarare forms undetermined leukodystrophies