Results 51 to 60 of about 4,795 (186)
Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts. [PDF]
PLoS ONE, 2013 Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage disorders characterized by the accumulation of lipofuscin within lysosomes. Late infantile (LINCL) and juvenile (JNCL) are their most common forms and are caused by loss-of-function mutations in ...
José Manuel Vidal-Donet +4 more
doaj +1 more source
Disease Models & Mechanisms, 2015 Neuronal ceroid lipofuscinosis (NCL) is the most common childhood-onset neurodegenerative disease. NCL is inevitably fatal, and there is currently no treatment available.
Jonathan E. Phillips, Richard H. Gomer
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Biodistribution of TPP1 preparations.
, 2012 Tpp1(−/−) mice were administered indicated amounts of enzyme via tail vein injection and tissues collected after 24 hours. TPP1 specific activity (activity/mg protein) was normalized to that of wild-type controls.
Istvan Sohar (152558) +4 more
core +1 more source
Thermostability of TPP1 preparations.
, 2012 Left Panels: Proenzyme was incubated at pH 7.2 at different temperatures and then frozen at the indicated times. Preparations were subsequently autoactivated at pH 3.5 for 1.5 h at 37°C prior to measuring enzyme activity.
Istvan Sohar (152558) +4 more
core +1 more source
Plasma circulatory half-life of TPP1 preparations.
, 2012 Tpp1(−/−) mice were administered 0.12 mg (Top) or 2 mg (Bottom) of unmodified or modified TPP1 via tail vein injection and plasma samples collected via cheek puncture at indicated times.
Istvan Sohar (152558) +4 more
core +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
HSV-1 Remodels Host Telomeres to Facilitate Viral Replication
Cell Reports, 2014 Telomeres protect the ends of cellular chromosomes. We show here that infection with herpes simplex virus 1 (HSV-1) results in chromosomal structural aberrations at telomeres and the accumulation of telomere dysfunction-induced DNA damage foci (TIFs). At
Zhong Deng +14 more
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
A tripeptidyl peptidase 1 is a binding partner of the Golgi pH regulator (GPHR) in Dictyostelium
Disease Models & Mechanisms, 2017 Mutations in tripeptidyl peptidase 1 (TPP1) have been associated with late infantile neuronal ceroid lipofuscinosis (NCL), a neurodegenerative disorder. TPP1 is a lysosomal serine protease, which removes tripeptides from the N-terminus of proteins and is
Maria Stumpf +8 more
doaj +1 more source
Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research
Mass Spectrometry Reviews, EarlyView.Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik +3 more
wiley +1 more source