[HTML][HTML] Neuronal ceroid lipofuscinoses

A Jalanko, T Braulke - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2009 - Elsevier
The neuronal ceroid lipofuscinoses (NCL) are severe neurodegenerative lysosomal storage
disorders of childhood, characterized by accumulation of autofluorescent ceroid …

[HTML][HTML] Pathomechanisms in the neuronal ceroid lipofuscinoses

HR Nelvagal, J Lange, K Takahashi… - … et Biophysica Acta (BBA …, 2020 - Elsevier
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical …

Canine tumor cross-species genomics uncovers targets linked to osteosarcoma progression

M Paoloni, S Davis, S Lana, S Withrow, L Sangiorgi… - BMC genomics, 2009 - Springer
Background Pulmonary metastasis continues to be the most common cause of death in
osteosarcoma. Indeed, the 5-year survival for newly diagnosed osteosarcoma patients has …

Activation of microglia acidifies lysosomes and leads to degradation of Alzheimer amyloid fibrils

A Majumdar, D Cruz, N Asamoah… - Molecular biology of …, 2007 - Am Soc Cell Biol
Microglia are the main immune cells of the brain, and under some circumstances they can
play an important role in removal of fibrillar Alzheimer amyloid β peptide (fAβ). Primary …

AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease

ML Katz, L Tecedor, Y Chen, BG Williamson… - Science translational …, 2015 - science.org
The most common form of the childhood neurodegenerative disease late infantile neuronal
ceroid lipofuscinosis (also called Batten disease) is caused by deficiency of the soluble …

International veterinary canine dyskinesia task force ECVN consensus statement: terminology and classification

S Cerda‐Gonzalez, RA Packer, L Garosi… - Journal of veterinary …, 2021 - Wiley Online Library
Movement disorders are a heterogeneous group of clinical syndromes in humans and
animals characterized by involuntary movements without changes in consciousness. Canine …

Changing times for CLN2 disease: the era of enzyme replacement therapy

N Specchio, N Pietrafusa… - Therapeutics and clinical …, 2020 - Taylor & Francis
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a progressive neurodegenerative
disease that results in early-onset, severe, progressive, neurological disabilities, leading to …

Enzyme replacement therapy attenuates disease progression in a canine model of late‐infantile neuronal ceroid lipofuscinosis (CLN 2 disease)

ML Katz, JR Coates, CM Sibigtroth… - Journal of …, 2014 - Wiley Online Library
Using a canine model of classical late‐infantile neuronal ceroid lipofuscinosis (CLN2
disease), a study was conducted to evaluate the potential pharmacological activity of …

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

FHG Farias, R Zeng, GS Johnson, FA Wininger… - Neurobiology of …, 2011 - Elsevier
A recessive, adult-onset neuronal ceroid-lipofuscinosis (NCL) occurs in Tibetan terriers. A
genome-wide association study restricted this NCL locus to a 1.3 Mb region of canine …

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

E Gardner, M Bailey, A Schulz, M Aristorena… - Human …, 2019 - Wiley Online Library
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition
caused by variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme …