Idioma:

Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice

Hafler, Brian P ; Klein, Zoe A ; Jimmy Zhou, Z ; Strittmatter, Stephen M

Brain research, 2014-11, Vol.1588, p.168-174 [Periódico revisado por pares]

Amsterdam: Elsevier B.V

Texto completo disponível

Citações Citado por

Enviar para

Título:
Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice
Autor: Hafler, Brian P ; Klein, Zoe A ; Jimmy Zhou, Z ; Strittmatter, Stephen M
Assuntos: Animals ; Autofluorescent storage material ; Biological and medical sciences ; Cells, Cultured ; Electroretinography ; Errors of metabolism ; Eye and associated structures. Visual pathways and centers. Vision ; Fundamental and applied biological sciences. Psychology ; Immunohistochemistry ; Intercellular Signaling Peptides and Proteins - deficiency ; Intercellular Signaling Peptides and Proteins - genetics ; Lipids (lysosomal enzyme disorders, storage diseases) ; Medical sciences ; Metabolic diseases ; Mice, Inbred C57BL ; Mice, Knockout ; Microscopy, Confocal ; Neurodegeneration ; Neurology ; Neuronal ceroid lipofuscinosis ; Neuronal Ceroid-Lipofuscinoses ; Optical Imaging ; Photoreceptor Cells, Vertebrate - pathology ; Photoreceptor Cells, Vertebrate - physiology ; Progranulin ; Retinal Degeneration - pathology ; Retinal Degeneration - physiopathology ; Retinal Ganglion Cells - pathology ; Retinal Ganglion Cells - physiology ; Vertebrates: nervous system and sense organs
É parte de: Brain research, 2014-11, Vol.1588, p.168-174
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Contributed equally to this work
Descrição: Abstract Prior investigations have shown that patients with neuronal ceroid lipofuscinosis (NCL) develop neurodegeneration characterized by vision loss, motor dysfunction, seizures, and often early death. Neuropathological analysis of patients with NCL shows accumulation of intracellular autofluorescent storage material, lipopigment, throughout neurons in the central nervous system including in the retina. A recent study of a sibling pair with adult onset NCL and retinal degeneration showed linkage to the region of the progranulin ( GRN ) locus and a homozygous mutation was demonstrated in GRN. In particular, the sibling pair with a mutation in GRN developed retinal degeneration and optic atrophy. This locus for this form of adult onset neuronal ceroid lipofuscinosis was designated neuronal ceroid lipofuscinosis-11 ( CLN11 ). Based on these clinical observations, we wished to determine whether Grn -null mice develop accumulation of autofluorescent particles and retinal degeneration. Retinas of both wild-type and Progranulin deficient mice were examined by immunostaining and autofluorescence. Accumulation of autofluorescent material was present in Progranulin deficient mice at 12 months. Degeneration of multiple classes of neurons including photoreceptors and retinal ganglion cells was noted in mice at 12 and 18 months. Our data shows that Grn−/− mice develop degenerative pathology similar to features of human CLN11.
Editor: Amsterdam: Elsevier B.V
Idioma: Inglês

Links

Voltar para lista de resultados

Anterior Resultado 3 Avançar Ir para próxima página

Realização: Logos de Redes Sociais:

Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice

Hafler, Brian P ; Klein, Zoe A ; Jimmy Zhou, Z ; Strittmatter, Stephen M

Amsterdam: Elsevier B.V

Buscando em bases de dados remotas. Favor aguardar.