Journal ArticleDOI
A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL
O. P. van Diggelen,J. L. M. Keulemans,Bryan Winchester,I.L. Hofman,Sanna-Leena Vanhanen,Pirkko Santavuori,Y. V. Voznyi +6 more
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TLDR
Improved PPT assay is simple, sensitive, and robust and will facilitate the definition of the full clinical spectrum associated with a deficiency of PPT, showing the feasibility of rapid pre- and postnatal diagnosis of INCL and its variants.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 1999-04-01. It has received 120 citations till now. The article focuses on the topics: PPT1 & Palmitoyl protein thioesterase.read more
Citations
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Journal ArticleDOI
Neuronal loss and brain atrophy in mice lacking cathepsins B and L.
Ute Felbor,Benedikt M. Kessler,Walther Mothes,Hans H. Goebel,Hidde L. Ploegh,Roderick T. Bronson,Bjorn R. Olsen +6 more
TL;DR: It is shown that combined deficiency of cathepsins B and L in mice is lethal during the second to fourth week of life, which reveals a degree of brain atrophy not previously seen in mice.
Journal ArticleDOI
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
TL;DR: This review attempts to correlate the gene, disease-causing mutation, morphology and clinical phenotype for each type of NCL.
Journal ArticleDOI
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis.
John J. Bellizzi,Joanne Widom,Christopher J. Kemp,Jui Yun Lu,Amit Das,Sandra L. Hofmann,Jon Clardy +6 more
TL;DR: The crystal structure of PPT1 with and without bound palmitate is determined by using multiwavelength anomalous diffraction phasing and reveals an alpha/beta-hydrolase fold with a catalytic triad composed of Ser115-His289-Asp233 and provides insights into the structural basis for the phenotypes associated with P PT1 mutations.
Journal ArticleDOI
A unified approach to targeting the lysosome’s degradative and growth signaling roles
Vito W. Rebecca,Michael C. Nicastri,Noel P. McLaughlin,Colin Fennelly,Quentin McAfee,Amruta Ronghe,Michel Nofal,Chun Yan Lim,Eric S. Witze,Cynthia I. Chude,Gao Zhang,Gretchen M. Alicea,Shengfu Piao,Sengottuvelan Murugan,Rani Ojha,Samuel M. Levi,Zhi Wei,Julie S. Barber-Rotenberg,Maureen E. Murphy,Gordon B. Mills,Yiling Lu,Joshua D. Rabinowitz,Ronen Marmorstein,Qin Liu,Shujing Liu,Xiaowei Xu,Meenhard Herlyn,Roberto Zoncu,Donita C. Brady,David W. Speicher,Jeffrey D. Winkler,Ravi K. Amaravadi +31 more
TL;DR: Chemical features of dimeric compounds that increase their lysosomal specificity, and a new molecular target for these compounds, reclassifying these compounds as targeted therapies are identified, providing a new strategy for cancer therapy.
Journal ArticleDOI
CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis.
Megan A. Griffey,David F. Wozniak,Michael Wong,Ellen Bible,Kendra Johnson,Steven M. Rothman,Annie E. Wentz,Jonathan D. Cooper,Mark S. Sands +8 more
TL;DR: The data suggest that early treatment of INCL using gene transfer techniques can be efficacious, however, higher levels or a broader distribution of PPT1 expression, or both, will be required for more complete correction of this neurodegenerative disease.
References
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Journal ArticleDOI
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
Jouni Vesa,Hellsten E,Linda A. Verkruyse,Laura A. Camp,Juhani Rapola,Pirkko Santavuori,Sandra L. Hofmann,Leena Peltonen +7 more
TL;DR: The identification, by positional candidate methods, of defects in the palmitoyl-protein thioesterase gene in all 42 Finnish INCL patients and several non-Finnish patients is reported, which results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain of patients.
Journal ArticleDOI
Isolation of a novel gene underlying batten disease, CLN3
Terry J. Lerner,Rose-Mary Boustany,John W. Anderson,K. L. D'arigo,Karen Schlumpf,Alan Buckler,James F. Gusella,Jonathan L. Haines +7 more
TL;DR: Two separate deletions and a point mutation altering a splice site in three unrelated families have confirmed the candidate gene that is disrupted by a 1 kb genomic deletion in all patients carrying the 56 chromosome as the CLN3 gene.
Journal ArticleDOI
Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis
David E. Sleat,Robert J. Donnelly,Henry Lackland,Henry Lackland,Chang Gong Liu,Istvan Sohar,Istvan Sohar,Raju K. Pullarkat,Peter Lobel,Peter Lobel +9 more
TL;DR: In this paper, the mannose 6-phosphate modification of newly synthesized lysosomal enzymes was used as an affinity marker, and a single protein was identified that is absent in LINCL.
Book ChapterDOI
A centrifuged-column procedure for the measurement of ligand binding by beef heart F1.
TL;DR: This chapter describes the method suitable for determination of the binding of most of these ligands by the enzyme, utilizes very small amounts of protein, and is highly sensitive because the ligand which was bound to protein is measured in the absence of free ligand.
Journal ArticleDOI
Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras.
Laura A. Camp,Sandra L. Hofmann +1 more
TL;DR: An assay for the enzymatic removal of palmitate from [3H]palmitate-labeled H-Ras is developed and it is shown that this substrate was produced in a baculovirus expression system and was used to purify to homogeneity a novel 37-kDa enzyme from bovine brain cytosol that removes the radiolabeled palmitates.
Related Papers (5)
Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras.
Laura A. Camp,Sandra L. Hofmann +1 more