Disruption ofPPT2in mice causes an unusual lysosomal storage disorder with neurovisceral features

scientific article published on October 3, 2003

Disruption ofPPT2in mice causes an unusual lysosomal storage disorder with neurovisceral features is …
instance of (P31):
scholarly articleQ13442814

External links are
P819ADS bibcode2003PNAS..10012325G
P356DOI10.1073/PNAS.2033229100
P953full work available at URLhttps://europepmc.org/articles/PMC218757
https://europepmc.org/articles/pmc218757?pdf=render
https://doi.org/10.1073/pnas.2033229100
https://europepmc.org/articles/PMC218757?pdf=render
https://pnas.org/doi/pdf/10.1073/pnas.2033229100
P932PMC publication ID218757
P698PubMed publication ID14528005
P5875ResearchGate publication ID9064252

P2093author name stringJames A. Richardson
John M. Shelton
Praveena Gupta
Sandra L. Hofmann
Krystyna E. Wisniewski
Abigail A. Soyombo
Ian G. Wilkofsky
P2860cites workLipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesteraseQ24308145
Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificityQ24320100
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosisQ24322669
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout miceQ24555093
The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2Q27641662
Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-RasQ28626381
Molecular cloning and expression of palmitoyl-protein thioesteraseQ28626396
Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observationsQ30830725
Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3.Q33853637
Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease).Q34448891
The mousetrap: what we can learn when the mouse model does not mimic the human diseaseQ34578759
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.Q37383913
TUNEL apoptotic cell detection in tissue sections: critical evaluation and improvementQ38472345
Animal models of lysosomal disease: an overviewQ38578684
Mouse models of human lysosomal diseases.Q40870650
Diagnosis of neurometabolic disorders by examination of skin biopsies and lymphocytes.Q48681062
Phenotype analysis in neurological models of human diseaseQ74675128
P433issue21
P407language of work or nameEnglishQ1860
P304page(s)12325-12330
P577publication date2003-10-03
P1433published inProceedings of the National Academy of Sciences of the United States of AmericaQ1146531
P1476titleDisruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features
Disruption ofPPT2in mice causes an unusual lysosomal storage disorder with neurovisceral features
P478volume100

Reverse relations

cites work (P2860)
Q37462041A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera.
Q42028708Characterization of a serine hydrolase targeted by acyl-protein thioesterase inhibitors in Toxoplasma gondii
Q34427575Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
Q33779818Dynamic palmitoylation and the role of DHHC proteins in T cell activation and anergy
Q33306146Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response
Q37145569Identification of differentially expressed genes by gabapentin in cultured dorsal root ganglion in a rat neuropathic pain model
Q48173099Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis
Q30477117Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease
Q38236849Palmitoylation and depalmitoylation defects
Q92412421Preclinical pharmacological evaluation of the fatty acid amide hydrolase inhibitor BIA 10-2474
Q35681068Selectivity and types of cell death in the neuronal ceroid lipofuscinoses
Q24617469The Drosophila protein palmitoylome: characterizing palmitoyl-thioesterases and DHHC palmitoyl-transferases
Q35825859The cell biology of lysosomal storage disorders
Q34302797The genetic spectrum of human neuronal ceroid-lipofuscinoses
Q35792475The idiopathic preterm delivery methylation profile in umbilical cord blood DNA.
Q35681065The intracellular location and function of proteins of neuronal ceroid lipofuscinoses
Q35333042The metabolic serine hydrolases and their functions in mammalian physiology and disease

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