ceroid การใช้

• Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
• Pathologically the ceroid-lipofuscin accumulates mainly in neurons and contains subunit C of the mitochondrial ATP synthase.
• Neuronal ceroid lipofuscinosis ( NCL ) is a rare but serious disease that is limited to show Border Collies.
• It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses ( NCLs ).
• Neuronal ceroid lipofuscinoses ( NCLs ) are a family of diseases which are inherited in an autosomal recessive manner.
• The study is focusing on a form called INCL ( infantile neuronal ceroid lipofuscinoses ) or Santavuori-Haltia disease.
• Neuronal ceroid lipofuscinoses ( NCL ) represent a group of encephalopathies that occur in 1 in 12, 500 children.
• Jansky Bielschowsky disease is also known as : late-infantile Batten disease, LINCL, or neuronal ceroid lipofuscinosis.
• Neuronal ceroid lipofuscinosis is a group of diseases that cause blindness, loss of mental abilities, and loss of movement.
• Deficiency of " CTSD " gene has been reported an underlying cause of neuronal ceroid lipofuscinosis ( NCL ).
• Mutations in the " TPP1 " gene lead to late infantile neuronal ceroid lipofuscinosis, a fatal neurodegenerative disease of childhood.
• Mutations in this gene are associated with progressive epilepsy with mental retardation ( EPMR ), a subtype of neuronal ceroid lipofuscinosis ( NCL ).
• Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 ( CLN1, or INCL ) and neuronal ceroid lipofuscinosis 4 ( CLN4 ).
• Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 ( CLN1, or INCL ) and neuronal ceroid lipofuscinosis 4 ( CLN4 ).
• The neuronal ceroid lipofuscinoses ( NCLs ) are a group of inherited neurodegenerative disorders with pathological phenotypes that auto fluorescent lipopigments present in neurons and other cell types.
• The luminal cells will often have decapitation ( apocrine ) secretions and will also have yellow-brown, ceroid, lipofuscin-like ( cerumen ) pigment granules.
• "' Jansky Bielschowsky disease "'is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis ( NCL ) family of neurodegenerative disorders.
• Mutations of gene " TPP1 " result in late-infantile neuronal ceroid lipofuscinosis which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome.
• In 2 Mexican siblings with infantile onset of progressive myoclonic epilepsy and pathologic findings of neuronal ceroid lipofuscinosis in multiple cell types, a homozygous mutation in the KCTD7 gene ( R184C ) has been identified.