Header Logo

Search Result Details

Back to Search Results
This page shows the details of why an item matched the keywords from your search.
Search Results
BELLEN, HUGO
One or more keywords matched the following properties of BELLEN, HUGO
PropertyValue
overview Investigator, Howard Hughes Medical Institute, Baylor College of Medicine Professor, Departments of Molecular and Human Genetics and Neuroscience Director, Program in Developmental Biology I am interested in (1) providing a better fundamental understanding of the biology that governs the proper function and maintenance of neurons in aging adults (2) developing tools that can be applied to most genes to control transcript and protein levels in adult neurons to assess which proteins are required for neuronal survival and proper function (3) creating genome wide libraries to manipulate most genes in vivo. My lab uses the fruit fly Drosophila melanogaster as a model system because most biological processes are evolutionarily conserved and studies in fruit flies provide many important clues about the aging process in animals and human diseases.
One or more keywords matched the following items that are connected to BELLEN, HUGO
Item TypeName
Academic Article Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer.
Academic Article Cell adhesion, the backbone of the synapse: "vertebrate" and "invertebrate" perspectives.
Academic Article The BMP signaling pathway at the Drosophila neuromuscular junction and its links to neurodegenerative diseases.
Academic Article Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity.
Academic Article NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration.
Academic Article Suppression of neurodegeneration and increased neurotransmission caused by expanded full-length huntingtin accumulating in the cytoplasm.
Academic Article The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.
Academic Article Drosophila parkin mutants have decreased mass and cell size and increased sensitivity to oxygen radical stress.
Academic Article Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
Concept Eye Diseases
Concept Genetic Diseases, Inborn
Concept Disease Models, Animal
Concept Brain Diseases
Concept Neurodegenerative Diseases
Concept Retinal Diseases
Concept Alzheimer Disease
Concept Rare Diseases
Concept Hereditary Central Nervous System Demyelinating Diseases
Concept Disease Progression
Concept Eye Diseases, Hereditary
Concept Leigh Disease
Concept Genetic Predisposition to Disease
Concept Nervous System Diseases
Concept Glycogen Storage Disease
Concept Parkinson Disease
Concept Cerebellar Diseases
Concept Huntington Disease
Concept Disease
Concept Metabolic Diseases
Academic Article A mitocentric view of Parkinson's disease.
Academic Article Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases.
Academic Article A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Academic Article Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration.
Academic Article Fruit flies in biomedical research.
Academic Article Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress.
Academic Article The retromer complex in development and disease.
Academic Article Drosophila tools and assays for the study of human diseases.
Academic Article NMNAT2:HSP90 Complex Mediates Proteostasis in Proteinopathies.
Academic Article Uncoupling neuronal death and dysfunction in Drosophila models of neurodegenerative disease.
Academic Article Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.
Academic Article Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Academic Article Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.
Academic Article Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.
Academic Article Building dialogues between clinical and biomedical research through cross-species collaborations.
Academic Article Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Academic Article Genetic strategies to tackle neurological diseases in fruit flies.
Academic Article Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
Academic Article Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model.
Academic Article Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Academic Article Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Academic Article Using Drosophila to study mechanisms of hereditary hearing loss.
Academic Article Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to a-Synuclein Gain.
Academic Article The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders.
Academic Article Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
Academic Article Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Academic Article Sphingolipids in the Pathogenesis of Parkinson's Disease and Parkinsonism.
Academic Article Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Grant Mapping and rescuing EMS-induced lethal mutations on the Drosophila X Chromosome
Grant A Comprehensive Resource for Manipulating the Drosophila Genome
Grant Hrs and Endocytic Regulation of Notch and Wingless
Grant A Human cDNA Library for Functional Gene Replacement in Drosophila
Grant DEVELOPMENT BIOLOGY TRAINING PROGRAM
Grant A multi-species approach to find regulators of deafness genes
Grant Using CRISPR technology to study the function of paralogous genes
Grant Center for functional analysis of human UDN gene homologs in Drosophila and zebrafish
Academic Article The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases.
Academic Article cindr, the Drosophila Homolog of the CD2AP Alzheimer's Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis.
Academic Article Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Academic Article De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Academic Article De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Academic Article Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
Academic Article De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
Academic Article Elevated COUP-TFII expression in dopaminergic neurons accelerates the progression of Parkinson's disease through mitochondrial dysfunction.
Academic Article The Daam2-VHL-Nedd4 axis governs developmental and regenerative oligodendrocyte differentiation.
Academic Article Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases.
Academic Article TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS.
Academic Article Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Grant Functional Genomic Dissection of Alzheimer's Disease in Humans and Drosophila Models
Grant A Comprehensive Resource for Manipulating the Drosophila Genome
Academic Article TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Academic Article Recent insights into the role of glia and oxidative stress in Alzheimer's disease gained from Drosophila.
Grant IMPACTS OF GLIAL LIPID DROPLETS ON OXIDATIVE STRESS AND NEURODEGENERATION IN ALZHEIMER'S DISEASE
Academic Article Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer's disease-associated genes.
Academic Article ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
Academic Article Lord of the fruit flies: an interview with Hugo Bellen.
Academic Article De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Academic Article 'Fly-ing' from rare to common neurodegenerative disease mechanisms.
Academic Article The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.
Academic Article Sphingolipids in neurodegenerative diseases.
Academic Article Autolysosomal exocytosis of lipids protect neurons from ferroptosis.
Academic Article Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Academic Article Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation.
Academic Article Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.
Academic Article Highlighting rare disease research with a GENETICS and G3 series on genetic models of rare diseases.
Academic Article Highlighting rare disease research with a GENETICS and G3 series on genetic models of rare diseases.
Academic Article Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Academic Article OXR1 maintains the retromer to delay brain aging under dietary restriction.
Academic Article Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics.
Academic Article Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Academic Article Whole organism snRNA-seq reveals systemic peripheral changes in Alzheimer's Disease fly models.
Search Criteria
  • Disease