Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives
Lysosomes and lysosomal enzymes play a central role in numerous cellular processes,
including cellular nutrition, recycling, signaling, defense, and cell death. Genetic deficiencies …
including cellular nutrition, recycling, signaling, defense, and cell death. Genetic deficiencies …
[HTML][HTML] Cell biology of the NCL proteins: what they do and don't do
J Cárcel-Trullols, AD Kovács, DA Pearce - Biochimica et Biophysica Acta …, 2015 - Elsevier
The fatal, primarily childhood neurodegenerative disorders, neuronal ceroid lipofuscinoses
(NCLs), are currently associated with mutations in 13 genes. The protein products of these …
(NCLs), are currently associated with mutations in 13 genes. The protein products of these …
Identification of substrates of palmitoyl protein thioesterase 1 highlights roles of depalmitoylation in disulfide bond formation and synaptic function
EL Gorenberg, S Massaro Tieze, B Yücel, HR Zhao… - PLoS …, 2022 - journals.plos.org
Loss-of-function mutations in the depalmitoylating enzyme palmitoyl protein thioesterase 1
(PPT1) cause neuronal ceroid lipofuscinosis (NCL), a devastating neurodegenerative …
(PPT1) cause neuronal ceroid lipofuscinosis (NCL), a devastating neurodegenerative …
[HTML][HTML] Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared
clinical and pathological features, including seizures and progressive decline in vision …
clinical and pathological features, including seizures and progressive decline in vision …
S-palmitoylation of synaptic proteins in neuronal plasticity in normal and pathological brains
Protein lipidation is a common post-translational modification of proteins that plays an
important role in human physiology and pathology. One form of protein lipidation, S …
important role in human physiology and pathology. One form of protein lipidation, S …
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis
The neuronal ceroid lipofuscinoses (NCLs) are at least 13 distinct progressive
neurodegenerative disorders unified by the accumulation of lysosomal auto‐fluorescent …
neurodegenerative disorders unified by the accumulation of lysosomal auto‐fluorescent …
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation
MX Henderson, GS Wirak, Y Zhang, F Dai… - Acta …, 2016 - Springer
Neuronal ceroid lipofuscinoses (NCL) are a group of inherited neurodegenerative disorders
with lysosomal pathology (CLN1-14). Recently, mutations in the DNAJC5/CLN4 gene, which …
with lysosomal pathology (CLN1-14). Recently, mutations in the DNAJC5/CLN4 gene, which …
Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model
KP Koster, W Francesconi, F Berton, S Alahmadi… - Elife, 2019 - elifesciences.org
Protein palmitoylation and depalmitoylation alter protein function. This post-translational
modification is critical for synaptic transmission and plasticity. Mutation of the …
modification is critical for synaptic transmission and plasticity. Mutation of the …
[HTML][HTML] The contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research
The NCLs (neuronal ceroid lipofuscinosis) are forms of neurodegenerative disease that
affect people of all ages and ethnicities but are most prevalent in children. Commonly known …
affect people of all ages and ethnicities but are most prevalent in children. Commonly known …
Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells
E Scifo, A Szwajda, R Soliymani, F Pezzini… - Journal of …, 2015 - Elsevier
Neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive childhood
disorders, characterized by early accumulation of autofluorescent storage material in …
disorders, characterized by early accumulation of autofluorescent storage material in …