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Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disorder of children, characterized by selective death of neocortical neurons.
Laura Ahtiainen +8 more
doaj +3 more sources
: Neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive childhood disorders, characterized by early accumulation of autofluorescent storage material in lysosomes of neurons or other cells. Clinical symptoms of NCL include: progressive
Scifo E. +14 more
core +4 more sources
International audienceThe lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) removes thioester-linked fatty acid groups from membrane-bound proteins to facilitate their proteolysis.
Vergoten, Gerard, Bailly, Christian
core +4 more sources
PIK3CA mutations drive benign adipose overgrowth in facial infiltrating lipomatosis (FIL), but the downstream molecular mechanisms remain incompletely understood.
Hongrui Chen +7 more
doaj +2 more sources
Decreased sensitivity of palmitoyl protein thioesterase 1-deficient neurons to chemical anoxia. [PDF]
Infantile CLN1 disease, also known as infantile neuronal ceroid lipofuscinosis, is a fatal childhood neurodegenerative disorder caused by mutations in the CLN1 gene. CLN1 encodes a soluble lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1), and it is still unclear why neurons are selectively vulnerable to the loss of PPT1 enzyme activity in ...
Meyer M, Kovács AD, Pearce DA.
europepmc +4 more sources
Erratum to “Dual Regulation of Sprouty 4 Palmitoylation by ZDHHC7 and Palmitoyl-Protein Thioesterase 1: A Potential Therapeutic Strategy for Cisplatin-Resistant Osteosarcoma” [PDF]
Tianlong Huang +9 more
doaj +2 more sources
Genetic modifiers of Drosophila palmitoyl-protein thioesterase 1-induced degeneration. [PDF]
AbstractInfantile neuronal ceroid lipofuscinosis (INCL) is a pediatric neurodegenerative disease caused by mutations in the human CLN1 gene. CLN1 encodes palmitoyl–protein thioesterase 1 (PPT1), suggesting an important role for the regulation of palmitoylation in normal neuronal function.
Buff H, Smith AC, Korey CA.
europepmc +4 more sources
Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae. [PDF]
Infantile-onset neuronal ceroid lipofuscinosis (INCL) is a severe pediatric neurodegenerative disorder produced by mutations in the gene encoding palmitoyl-protein thioesterase 1 (Ppt1). This enzyme is responsible for the removal of a palmitate group from its substrate proteins, which may include presynaptic proteins like SNAP-25, cysteine string ...
Aby E +8 more
europepmc +4 more sources
Enzymatic activity of palmitoyl-protein thioesterase-1 in serum from schizophrenia significantly associates with schizophrenia diagnosis scales. [PDF]
AbstractGenome‐wide association studies have confirmed that schizophrenia is an inheritable multiple‐gene mental disorder. Longitudinal studies about depression, first episode psychosis (FEP) and acute psychotic relapse have mostly searched for brain imaging biomarkers and inflammatory markers from the blood.
Wu Y +9 more
europepmc +4 more sources
KAT7‐acetylated and cytoplasm‐translocated G‐protein GαS enhances IL‐6 effect and drives HCC progenitor cell progression. Abstract Background and Aims Hepatocarcinogenesis goes through HCC progenitor cells (HcPCs) to fully established HCC, and the mechanisms driving the development of HcPCs are still largely unknown.
Ye Zhou +15 more
wiley +1 more source

