Bioinformatic perspectives in the neuronal ceroid lipofuscinoses
نویسندگان
چکیده
منابع مشابه
The neuronal ceroid-lipofuscinoses.
The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of neurodegenerative diseases in childhood and usually show an autosomal recessive mode of inheritance. Despite varying ages of onset and clinical course characterized in most instances by progressive mental and motor deterioration, blindness, epileptic seizures, and premature death, all forms of NCL show un...
متن کاملTowards understanding the neuronal ceroid lipofuscinoses.
The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain diseases of children and young adults, characterized by a decline of mental and other capacities, epilepsy, and visual loss through retinal degeneration. The common pathology of NCLs is that of a storage disorder with accumulation of an autofluorescent material, ceroid lipofuscin, in combination with the degenera...
متن کاملThe neuronal ceroid lipofuscinoses: the same, but different?
The NCLs (neuronal ceroid lipofuscinoses) (also known as Batten disease) are a group of at least ten fatal inherited storage disorders. Despite the identification of many of the disease-causing genes, very little is known about the underlying disease mechanisms. However, now that we have mouse or large-animal models for most forms of NCL, we can investigate pathogenesis and compare what happens...
متن کاملSignificance of muscle biopsies in neuronal ceroid-lipofuscinoses.
Muscle specimens obtained at necropsy from four cases of neuronal ceroid-lipofuscinosis (NCL), three of the juvenile and one of the late infantile type, and a muscle biopsy from a fifth patient with the juvenile type of NCL, all showed curvilinear bodies typical of NCL within the muscle fibres. The pigments were autofluorescent. It appears that skeletal muscle is a reliable tissue source for th...
متن کاملSelectivity and types of cell death in the neuronal ceroid lipofuscinoses.
Cloning of the individual genes that are mutated in the neuronal ceroid lipofuscinoses (NCLs), or Batten disease, has opened up new avenues of research into the pathogenesis of these fatal autosomal recessive storage disorders. Genetically accurate mouse models have now been generated for each major form of the disorder, together with several variant forms. Ongoing analysis of these mice is rev...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2013
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2012.12.010