Acid Sphingomyelinase Deficiency Ameliorates Farber Disease
نویسندگان
چکیده
منابع مشابه
Acid sphingomyelinase gene deficiency ameliorates the hyperhomocysteinemia-induced glomerular injury in mice.
Hyperhomocysteinemia (hHcys) enhances ceramide production, leading to the activation of NADPH oxidase and consequent glomerular oxidative stress and sclerosis. The present study was performed to determine whether acid sphingomyelinase (Asm), a ceramide-producing enzyme, is implicated in the development of hHcys-induced glomerular oxidative stress and injury. Uninephrectomized Asm-knockout (Asm(...
متن کاملDisease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically...
متن کاملSphingomyelinase deficiency (Niemann-Pick disease) in a Hereford calf.
A 5-month-old Hereford calf with neurologic disease was euthanatized, and a necropsy was done. No gross lesions were seen in the brain. Microscopically, neurons throughout the brain and spinal cord had distended, foamy vacuolated cytoplasm. Ultrastructure showed clear vacuoles filling the neuronal cytoplasm. A lysosomal storage disease was suspected. Sphingomyelinase deficiency was confirmed by...
متن کاملIntroducing Two Cases of Farber Disease
Lipogranulomatosis or Farber's disease in a rare autosomal recessive disorder characterized by swollen, tender joints, periarticular and subcutaneous nodules, horsncss and progressive aphonia. Hepatosplcnomcgaly and C.N.S. involvements arc also reported in certain patients. The disorder is caused by a deficiency of acid ceramidase which may be best diagnosed by missing ceramidasc activity at a...
متن کاملAcid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease.
performance of the GM-CSF affinity column used to isolate antibodies. If used repeatedly, is it possible that a proportion of high affinity anti–GM-CSF AAs from PAP sera used as a positive control would be retained on the GM-CSF column and released slowly during subsequent purifications of HC IgG? If PAP anti–GMCSF IgG contamination did occur, not only would it account for the immunoblot data g...
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ژورنال
عنوان ژورنال: International Journal of Molecular Sciences
سال: 2019
ISSN: 1422-0067
DOI: 10.3390/ijms20246253