Results 141 to 150 of about 32,016,499 (171)

PPT1 selectively depalmitoylates GAP43 to regulate neuronal excitability and cognitive function. [PDF]

open access: yesSci Adv
Tong J   +12 more
europepmc   +1 more source

Characterization of Drosophila palmitoyl-protein thioesterase 1

Gene, 2003
Batten disease or neuronal ceroid lipofuscinoses (NCL) are a group of genetic neurodegenerative diseases that primarily afflict infants and children and are characterized by progressive loss of brain functions caused by the death of central nervous system (CNS) neurons. The most severe form of the disease is infantile NCL (INCL).
Robert L, Glaser   +3 more
openaire   +2 more sources

Palmitoyl protein thioesterase 1 is targeted to the axons in neurons

Journal of Comparative Neurology, 2002
AbstractPalmitoyl protein thioesterase 1 (PPT1) is a depalmitoylating enzyme whose deficiency leads to infantile neuronal ceroid lipofuscinosis. The disease is characterized by early loss of vision and massive neuronal death. Although PPT1 is expressed in many tissues, a deficiency of PPT1 damages neurons only in the cerebral and cerebellar cortexes ...
Ahtiainen, L   +3 more
openaire   +3 more sources

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1

Neurology, 2007
The neuronal ceroid lipofuscinoses (NCLs) are the most common group of neurodegenerative diseases in children. Mutations in the CLN1 gene, which encodes the enzyme palmitoyl protein thioesterase 1 (PPT1), usually cause infantile-onset NCL (INCL) (Santavouri-Haltia disease, MIM 256730).1 INCL has an age at onset of 8 to 18 months with rapid visual and ...
H, Ramadan   +10 more
openaire   +2 more sources

Palmitoyl-protein thioesterase-1 in health and disease

Trends in Pharmacological Sciences
The palmitoylation/depalmitoylation cycle regulates protein localization, function, and stability, playing essential roles in signal transduction, membrane trafficking, and neuronal activity. Understanding the enzymes involved may reveal novel therapeutic targets.
Morgan Barnes, Renuka Raman, Sean Ekins
openaire   +2 more sources

Novel Neuroimaging Finding in Palmitoyl Protein Thioesterase-1-Related Neuronal Ceroid Lipofuscinosis

Pediatric Neurology, 2012
Palmitoyl protein thioesterase-1 (PPT1)-related neuronal ceroid lipofuscinosis is a type of neuronal ceroid lipofuscinosis caused by a deficiency of the enzyme palmitoyl protein thioesterase-1. Cranial magnetic resonance imaging reveals more severe atrophy in the cerebral hemispheres than in the cerebellum.
Mahesh, Kamate, Virupaxi, Hattiholi
openaire   +2 more sources

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