[go: up one dir, main page]
More Web Proxy on the site http://driver.im/

Giraud et al., 2023 - Google Patents

MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy

Giraud et al., 2023

View HTML
Document ID
2777309608202385961
Author
Giraud Q
Spiegelhalter C
Messaddeq N
Laporte J
Publication year
Publication venue
Brain

External Links

Snippet

Centronuclear and myotubular myopathies (CNM) are rare and severe genetic diseases associated with muscle weakness and atrophy as well as intracellular disorganization of myofibres. The main mutated proteins control lipid and membrane dynamics and are the …
Continue reading at academic.oup.com (HTML) (other versions)

Classifications

    • 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
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A61K31/713—Double-stranded nucleic acids or oligonucleotides
    • 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
    • A61K31/56—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives, e.g. steroids
    • 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
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine, rifamycins
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology

Similar Documents

Publication Publication Date Title
Kornak et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
Kim et al. Abca7 null mice retain normal macrophage phosphatidylcholine and cholesterol efflux activity despite alterations in adipose mass and serum cholesterol levels
Tang et al. VPS35 deficiency or mutation causes dopaminergic neuronal loss by impairing mitochondrial fusion and function
Kasher et al. Direct evidence for axonal transport defects in a novel mouse model of mutant spastin‐induced hereditary spastic paraplegia (HSP) and human HSP patients
Li et al. rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy
Bartoli et al. Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A
Pacheco et al. Tau deletion exacerbates the phenotype of Niemann–Pick type C mice and implicates autophagy in pathogenesis
Alrafiah et al. Plastin 3 promotes motor neuron axonal growth and extends survival in a mouse model of spinal muscular atrophy
Weber et al. Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model
Aboudehen et al. Hepatocyte nuclear factor–1β regulates urinary concentration and response to hypertonicity
Gelfman et al. Mice lacking α/β subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions
Zhao et al. Overcoming insulin insufficiency by forced follistatin expression in β-cells of db/db mice
Demonbreun et al. A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
Mori et al. Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B
Silva-Rojas et al. Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes
Zhao et al. Efficacy of AAV9-mediated SGPL1 gene transfer in a mouse model of S1P lyase insufficiency syndrome
Ling et al. Adeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome
Jiao et al. Mex3c regulates insulin-like growth factor 1 (IGF1) expression and promotes postnatal growth
Golson et al. Activation of FoxM1 revitalizes the replicative potential of aged β-cells in male mice and enhances insulin secretion
Xiao et al. Deficiency of PRKD2 triggers hyperinsulinemia and metabolic disorders
Ravenscroft et al. Cardiac α-actin over-expression therapy in dominant ACTA1 disease
Massana Muñoz et al. Different in vivo impacts of dynamin 2 mutations implicated in Charcot–Marie–Tooth neuropathy or centronuclear myopathy
Loch et al. Different extent of cardiac malfunction and resistance to oxidative stress in heterozygous and homozygous manganese-dependent superoxide dismutase-mutant mice
Giraud et al. MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy
Tokuoka et al. Compensatory regulation of dopamine after ablation of the tyrosine hydroxylase gene in the nigrostriatal projection