Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives

M Solomon, S Muro - Advanced drug delivery reviews, 2017 - Elsevier
Lysosomes and lysosomal enzymes play a central role in numerous cellular processes,
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 …

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 …

[HTML][HTML] Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses

ES Butz, U Chandrachud, SE Mole… - Biochimica et Biophysica …, 2020 - Elsevier
The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared
clinical and pathological features, including seizures and progressive decline in vision …

S-palmitoylation of synaptic proteins in neuronal plasticity in normal and pathological brains

A Buszka, A Pytyś, D Colvin, J Włodarczyk, T Wójtowicz - Cells, 2023 - mdpi.com
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 …

Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis

N Naseri, M Sharma, M Velinov - Clinical genetics, 2021 - Wiley Online Library
The neuronal ceroid lipofuscinoses (NCLs) are at least 13 distinct progressive
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 …

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 …

[HTML][HTML] The contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research

RJ Huber, SM Hughes, W Liu, A Morgan… - … et Biophysica Acta (BBA …, 2020 - Elsevier
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 …

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 …