Results 21 to 30 of about 3,421 (195)

Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses

Neurobiology of Disease, 2005
Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage disorders characterized pathologically by neuronal accumulation of autofluorescent storage material and neurodegeneration. An ovine NCL form is caused by a recessive point mutation in
Liisa Myllykangas, Jaana Tyynelä, Andrea Page-McCaw, Gerald M. Rubin, Matti J. Haltia, Mel B. Feany   +5 more
doaj   +3 more sources

Global Brain Transcriptome Analysis of a Neuronal Ceroid Lipofuscinoses Mouse Model [PDF]

ASN Neuro, 2019
In humans, homozygous mutations in the TPP1 gene results in loss of tripeptidyl peptidase 1 (TPP1) enzymatic activity, leading to late infantile neuronal ceroid lipofuscinoses disease.
Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Judith G. Henry, Christopher B. Ware, Jorge Andrade, Glyn Dawson, Nancy B. Schwartz   +7 more
doaj   +2 more sources

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing. [PDF]

Clin Case Rep
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Nishi E, Yanagi K, Shima M, Yamazaki N, Kawato K, Narita A, Sakai N, Okamoto N, Yanagihara K, Kaname T.   +9 more
europepmc   +2 more sources

Pathomechanisms in the neuronal ceroid lipofuscinoses

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2020
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical symptoms. The recent emergence of new forms of NCL along with an improved understanding of endo-lysosomal system function have necessitated the reassessment of their ...
Hemanth R, Nelvagal, Jenny, Lange, Keigo, Takahashi, Marta A, Tarczyluk-Wells, Jonathan D, Cooper   +4 more
openaire   +4 more sources

Perioperative care of a patient with neuronal ceroid lipofuscinoses

Saudi Journal of Anaesthesia, 2013
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, autosomal recessive, and progressive neurodegenerative diseases, which result from an enzymatic defect or the deficiency of a transmembrane protein, leading to the accumulation of ...
Hiromi Kako, David P Martin, Joseph D Tobias   +2 more
doaj   +2 more sources

Ocular therapies for neuronal ceroid lipofuscinoses: more than meets the eye [PDF]

Neural Regeneration Research, 2022
Samantha J Murray, Nadia L Mitchell
doaj   +2 more sources

Palmitoyl-Protein Thioesterase 1 (PPT1) Protein, Linked to Neuronal Ceroid Lipofuscinosis 1, Is a Major Constituent of Ageing-Related Human Neuronal Lipofuscin. [PDF]

Neuropathol Appl Neurobiol
ABSTRACT Proteomics of laser‐dissected lipofuscin from aged, healthy brains reveals Palmitoyl‐Protein Thioesterase 1 (PPT1) and other CLN proteins as constituents. PPT1 is increasingly sequestered to lipofuscin during ageing. Protein sequestering into lipofuscin may contribute to physiological neuronal ageing.
Anstötz M, Tschirner S, May C, Kösters S, Martin C, Caspers S, Aronica E, Bidmon HJ, Marcus K, Korth C.   +9 more
europepmc   +2 more sources

Sunken eyes as a peculiar finding in neuronal ceroid lipofuscinoses [PDF]

Arquivos de Neuro-Psiquiatria
Raphael Pinheiro Camurugy da Hora, Victor Rebelo Procaci, João Victor Cabral Correia Férrer, Thiago Yoshinaga Tonholo Silva, Flávio Moura de Rezende Filho, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +6 more
doaj   +2 more sources

The Neuronal Ceroid Lipofuscinoses

Abstract The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited lysosomal storage disorders that share similar pathological and clinical features. They are characterized by accumulation of autofluorescent storage material within the lysosome and the death of neurons.
Mole SE.
europepmc   +2 more sources

Progressive retinal degeneration and glial activation in the Cln6nclf mouse model of neuronal ceroid lipofuscinosis : a beneficial effect of DHA and Curcumin supplementation [PDF]

, 2013
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures.
Jägle, Herbert, Karlstetter, Marcus, Langiu, Monica, Langmann, Thomas, Mirza, Myriam, Ruonala, Mika O., Somogyi, Aleksandra, Swaroop, Anand, Tamm, Ernst R., Volz, Cornelia   +9 more
core   +16 more sources