Literature DB >> 9151316

Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis.

S L Hofmann1, L A Lee, J Y Lu, L A Verkruyse.   

Abstract

Palmitoyl-protein thioesterase (PPT) has recently been shown to be the defective enzyme underlying the infantile form of neuronal ceroid lipofuscinosis (INCL). In this paper, we review the enzymology of PPT, evidence for its localization in lysosomes, and recent advances in understanding the metabolic defect caused by PPT deficiency. Absence of PPT activity in lysosomes isolated from INCL lymphoblasts is demonstrated. A model for the formation of the storage bodies in INCL involving defective autophagocytic proteolysis is proposed.

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Year:  1997        PMID： 9151316     DOI： 10.1055/s-2007-973661

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


  14 in total

1.  Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease.

Authors:  Glyn Dawson; Christina Schroeder; Philip E Dawson
Journal:  Biochem Biophys Res Commun       Date:  2010-03-25       Impact factor: 3.575

Review 2.  Astrocytes and lysosomal storage diseases.

Authors:  K V Rama Rao; T Kielian
Journal:  Neuroscience       Date:  2015-05-30       Impact factor: 3.590

3.  The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis.

Authors:  J J Bellizzi; J Widom; C Kemp; J Y Lu; A K Das; S L Hofmann; J Clardy
Journal:  Proc Natl Acad Sci U S A       Date:  2000-04-25       Impact factor: 11.205

Review 4.  The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases.

Authors:  M J Bennett; S L Hofmann
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

5.  Identification of substrates of palmitoyl protein thioesterase 1 highlights roles of depalmitoylation in disulfide bond formation and synaptic function.

Authors:  Erica L Gorenberg; Sofia Massaro Tieze; Betül Yücel; Helen R Zhao; Vicky Chou; Gregory S Wirak; Susumu Tomita; TuKiet T Lam; Sreeganga S Chandra
Journal:  PLoS Biol       Date:  2022-03-31       Impact factor: 8.029

6.  Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.

Authors:  M Gavin; G Y Wen; J Messing; S Adelman; A Logush; E C Jenkins; W T Brown; M Velinov
Journal:  JIMD Rep       Date:  2013-04-16

7.  Neuron-astrocyte interactions in neurodegenerative diseases: Role of neuroinflammation.

Authors:  Kakulavarapu V Rama Rao; Tammy Kielian
Journal:  Clin Exp Neuroimmunol       Date:  2015-08-03

8.  Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Authors:  A K Das; C H Becerra; W Yi; J Y Lu; A N Siakotos; K E Wisniewski; S L Hofmann
Journal:  J Clin Invest       Date:  1998-07-15       Impact factor: 14.808

9.  Advances in the Treatment of Neuronal Ceroid Lipofuscinosis.

Authors:  Jonathan B Rosenberg; Alvin Chen; Stephen M Kaminsky; Ronald G Crystal; Dolan Sondhi
Journal:  Expert Opin Orphan Drugs       Date:  2019-11-27       Impact factor: 0.694

10.  Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts.

Authors:  José Manuel Vidal-Donet; Jaime Cárcel-Trullols; Bonaventura Casanova; Carmen Aguado; Erwin Knecht
Journal:  PLoS One       Date:  2013-02-07       Impact factor: 3.240
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