A5037562795- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Diabetes and associated disorders
- Immune Cell Function and Interaction
- ATP Synthase and ATPases Research
- Phagocytosis and Immune Regulation
- RNA modifications and cancer
- Biochemical Acid Research Studies
- Biochemical and Molecular Research
- Liver Disease Diagnosis and Treatment
- RNA and protein synthesis mechanisms
- Pancreatic function and diabetes
- Cancer, Hypoxia, and Metabolism
- Glycogen Storage Diseases and Myoclonus
- Neonatal Health and Biochemistry
- Birth, Development, and Health
- DNA Repair Mechanisms
- Adipose Tissue and Metabolism
- Coenzyme Q10 studies and effects
- Sphingolipid Metabolism and Signaling
- Nerve injury and regeneration
- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Parkinson's Disease Mechanisms and Treatments
Hadassah Medical Center
2016-2025
Hebrew University of Jerusalem
2016-2025
Hadassah Academic College
1993-2025
Jerusalem College of Technology
2025
Zagazig University
2024
Sungkyunkwan University
2023
Case Western Reserve University
2015
University Hospitals Cleveland Medical Center
2015
Schneider Children's Medical Center
2011
Tel Aviv University
2011
Abstract The mitochondrial respiratory chain comprises 85 subunits, 13 of which are encoded. synthesis these proteins requires many nuclear‐encoded that participate in DNA replication, transcript production, and a distinctive translation apparatus. We report patient with agenesis corpus callosum, dysmorphism, fatal neonatal lactic acidosis markedly decreased complex I IV activity muscle liver generalized defect identified pulse‐label experiments. was associated marked reduction the 12S rRNA...
In N mice, peripheral nerve injury is followed by the normal rapid progression of Wallerian degeneration: Schwann cells proliferate and lose their myelin, which phagocytized metabolized blood-borne macrophages. The role in myelin phagocytosis debated. Additionally, molecular mechanisms underlying two cell types are not well understood. To elucidate as phagocytes we studied, electron microscopically, vivo vitro degenerating, frozen, neuroma segments. major composing these tissues differed:...
Ceramide is a key intermediate in the pathway of sphingolipid biosynthesis and an important intracellular messenger. We recently generated ceramide synthase 2 (CerS2) null mouse that cannot synthesize very long acyl chain (C22-C24) ceramides. This displays severe progressive hepatopathy. Significant changes were observed profile CerS2 liver, including elevated C16-ceramide sphinganine levels liver isolated mitochondrial fractions. Because may be involved reactive oxygen species (ROS)...
Three patients born to the same set of consanguineous parents presented with antenatal skin oedema, hypotonia, cardiomyopathy and tubulopathy. The enzymatic activities multiple mitochondrial respiratory chain complexes were reduced in muscle. Marked reduction 12s rRNA, core small ribosomal subunit, was found fibroblasts. Homozygosity mapping led identification a mutation <i>MRPS22</i> gene, which encodes protein. Transfection patient cells wild-type cDNA increased rRNA content normalised...
Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from defective mitochondrial energy production through oxidative phosphorylation. These defects can be caused by either mutations in the mtDNA or nuclear genes coding for proteins. The underlying pathomechanisms affect numerous pathways involved physiology. By whole-exome and candidate gene sequencing, we identified 11 individuals 9 families carrying compound heterozygous homozygous GTPBP3, encoding...
Abstract Mitochondria can be incorporated into mammalian cells by simple co-incubation of isolated mitochondria with cells, without the need transfection reagents or any other type intervention. This phenomenon was termed mitochondrial transformation and although it discovered in 1982, currently little is known regarding its mechanism(s). Here we demonstrate that transformed recipient very quickly co-localize endogenous mitochondria. The interact directly which engulf cellular extensions a...
Pathogenesis of neurodegenerative diseases involves dysfunction mitochondria, one the most important cell organelles in brain, with its prominent roles producing energy and regulating cellular metabolism. Here we investigated effect transferring active intact mitochondria a s potential therapy for Alzheimer's disease (AD), order to correct as many mitochondrial functions possible, rather than mono-drug related therapy. For this purpose, AD-mice (amyloid-β intracerebroventricularly injected)...
In bacteria, SOS is a global response to DNA damage, mediated by the recA-lexA genes, resulting in cell cycle arrest, repair, and mutagenesis. Previously, we reported that Escherichia coli responds damage via another recA-lexA-mediated pathway programmed death (PCD). We called it apoptosis-like (ALD) because characterized membrane depolarization fragmentation, which are hallmarks of eukaryotic mitochondrial apoptosis. Here, show ALD an extreme occurs only under conditions severe damage....
<h3>Background</h3> Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with involving both the nuclear genomes. <h3>Objective</h3> To identify causative genetic defect in two sisters presenting lethal infantile encephalopathy, optic atrophy. <h3>Methods</h3> We describe a comprehensive clinical, biochemical molecular investigation of affected siblings from consanguineous family. Molecular...