[go: up one dir, main page]

Tsourmas et al., 2024 - Google Patents

Myeloid-derived β-hexosaminidase is essential for neuronal health and lysosome function: implications for Sandhoff disease

Tsourmas et al., 2024

View HTML @Free from Publisher
Document ID
18264058179879367892
Author
Tsourmas K
Butler C
Kwang N
Sloane Z
Dykman K
Maloof G
Prekopa C
Krattli R
El-Khatib S
Swarup V
Acharya M
Hohsfield L
Green K
Publication year
Publication venue
bioRxiv

External Links

Snippet

Lysosomal storage disorders (LSDs) are a large disease class involving lysosomal dysfunction, often resulting in neurodegeneration. Sandhoff disease (SD) is an LSD caused by a deficiency in the β subunit of the β-hexosaminidase enzyme (Hexb). Although Hexb …
Continue reading at pmc.ncbi.nlm.nih.gov (HTML) (other versions)

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
    • C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
    • G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • G01N33/6896—Neurological disorders, e.g. Alzheimer's disease
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K35/00—Medicinal preparations containing materials or reaction products thereof with undetermined constitution
    • A61K35/12—Materials from mammals; Compositions comprising non-specified tissues or cells; Compositions comprising non-embryonic stem cells; Genetically modified cells
    • A61K35/30—Nerves; Brain; Eyes; Corneal cells; Cerebrospinal fluid; Neuronal stem cells; Neuronal precursor cells; Glial cells; Oligodendrocytes; Schwann cells; Astroglia; Astrocytes; Choroid plexus; Spinal cord tissue
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological disorders
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof

Similar Documents

Publication Publication Date Title
Molina-Gonzalez et al. Astrocyte-oligodendrocyte interaction regulates central nervous system regeneration
Tincer et al. Neural stem/progenitor cells in Alzheimer’s disease
Watase et al. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model
Magini et al. Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis
Choi et al. Regulation of α-synuclein homeostasis and inflammasome activation by microglial autophagy
Liang et al. Exosomal miR‐532‐5p induced by long‐term exercise rescues blood–brain barrier function in 5XFAD mice via downregulation of EPHA4
Maier et al. N-acetylaspartate synthase deficiency corrects the myelin phenotype in a Canavan disease mouse model but does not affect survival time
Fan et al. Nitazoxanide, an anti-parasitic drug, efficiently ameliorates learning and memory impairments in AD model mice
Wu et al. Microglia replacement halts the progression of microgliopathy in mice and humans
CN110913872B (en) Compositions and methods for treating lysosomal storage diseases and disorders
El Ghouzzi et al. Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology
Matera et al. Microglial lipid phosphatase SHIP1 limits complement-mediated synaptic pruning in the healthy developing hippocampus
Muthiah et al. The leukodystrophies HBSL and LBSL—correlates and distinctions
Kim et al. Artificial intelligence-driven drug repositioning uncovers efavirenz as a modulator of α-synuclein propagation: implications in Parkinson’s disease
Fu et al. Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of J apanese patients with novel SCARB2 mutations
Tsourmas et al. Myeloid-derived β-hexosaminidase is essential for neuronal health and lysosome function: implications for Sandhoff disease
Chen et al. Can alpha-synuclein be both the cause and a consequence of Parkinson's disease?
Chen et al. Astrocyte-derived clusterin disrupts glial physiology to obstruct remyelination in mouse models of demyelinating diseases
Wu et al. Synovia tissue-specific exosomes participate in the dual variation of the osteoarthritis microenvironment via miR-182
Bugiani et al. Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA
Choi et al. Maternal lead exposure induces sex-dependent cerebellar glial alterations and repetitive behaviors
Wang et al. Neuronal ABCA7 deficiency aggravates mitochondrial dysfunction and neurodegeneration in Alzheimer's disease
Tsourmas et al. Microglial replacement in a Sandhoff disease mouse model reveals myeloid-derived β-hexosaminidase is necessary for neuronal health
Jindachomthong et al. White matter abnormalities in the Hdc knockout mouse, a model of tic and OCD pathophysiology
Stockley et al. Oligodendrocyte Slc48a1 (Hrg1) encodes a functional heme transporter required for myelin integrity