Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Palmitoyl(protein) hydrolase"'
Autor:
Virupaxi Hattiholi, Mahesh Kamate
Publikováno v:
Pediatric Neurology. 46:325-328
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 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21423bc2c85c442b91200460cbb490fe
https://doi.org/10.1016/j.pediatrneurol.2012.02.021
https://doi.org/10.1016/j.pediatrneurol.2012.02.021
Autor:
IA Cismondi, R. Kohan, R. Dodelson de Kremer, N Guelbert, Michael Fietz, V. Tapia Anzolini, VJ Muller, AM Oller Ramírez, I. Noher de Halac
Publikováno v:
Clinical Genetics. 76:372-382
The neuronal ceroid lipofuscinoses (NCLs) are a family of progressive neurodegenerative diseases that are characterized by the cellular accumulation of ceroid lipofuscin-like bodies. NCL type 1 (CLN1) and type 2 (CLN2) are caused by deficiencies of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f202ecf7943b479ac3495ba773ad727e
https://doi.org/10.1111/j.1399-0004.2009.01214.x
https://doi.org/10.1111/j.1399-0004.2009.01214.x
Autor:
Sandra L. Hofmann, Jui-Yun Lu
Publikováno v:
Journal of Inherited Metabolic Disease. 29:119-126
Infantile neuronal ceroid lipofuscinosis (INCL, also known as infantile Batten disease) is a devastating neurodegenerative disorder caused by deficiency in the lysosomal enzyme palmitoyl-protein thioesterase (PPT, or CLN1), which functions to remove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c0912f99fd7c83cd466fd09874d4a36
https://doi.org/10.1007/s10545-006-0225-z
https://doi.org/10.1007/s10545-006-0225-z
Autor:
Alison Heffer, Moonsuk S. Choi, Yan Xu, Sung-Jo Kim, Yi Jin Xiao, Peng Zhang, Yi-Ching Lee, Zhongjian Zhang, Anil B. Mukherjee, Pei Chih Tsai
Publikováno v:
Human Molecular Genetics. 15:337-346
Numerous proteins undergo modification by palmitic acid (S-acylation) for their biological functions including signal transduction, vesicular transport and maintenance of cellular architecture. Although palmitoylation is an essential modification, th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8eacdc3be83931e5e7a40377ce1921e
https://doi.org/10.1093/hmg/ddi451
https://doi.org/10.1093/hmg/ddi451
Publikováno v:
Human Molecular Genetics. 10:1431-1439
Deficiency in a recently characterized lysosomal enzyme, palmitoyl-protein thioesterase (PPT), leads to a severe neurodegenerative disorder of children, infantile neuronal ceroid lipofuscinosis (NCL). Over 36 different mutations in the PPT gene have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bab13c12c1673c30baf77fc48101443c
https://doi.org/10.1093/hmg/10.13.1431
https://doi.org/10.1093/hmg/10.13.1431
Autor:
Monique Losekoot, Peter E.M. Taschner, Yakov V. Voznyi, Caroline Tilikete, Marie‐Thérèse Zabot, Otto P. van Diggelen, Stéphane Thobois, Patrick A. van Bunderen, J. L. M. Keulemans
Publikováno v:
Annals of Neurology, 50, 269-272. John Wiley & Sons Inc.
The fluorogenic enzyme assay for palmitoyl-protein thioesterase (PPT) has greatly facilitated the diagnosis of infantile neuronal ceroid lipofuscinosis (Santavuori-Haltia disease) and the search for possible new variants with atypical clinical presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd8a62464180c132664d9fc5de17c7d
https://pure.eur.nl/en/publications/4f783a1b-bca8-4144-a393-c62b1a2983af
https://pure.eur.nl/en/publications/4f783a1b-bca8-4144-a393-c62b1a2983af
Autor:
Michael W. Hess, Anu Jalanko, Aija Kyttälä, O. Heinonen, Maarit Lehtovirta, Eeva-Liisa Eskelinen
Publikováno v:
Human Molecular Genetics. 10:69-75
A deficiency of palmitoyl protein thioesterase (PPT) leads to the neurodegenerative disease infantile neuronal ceroid lipofuscinosis (INCL), which is characterized by an almost complete loss of cortical neurons. PPT expressed in COS-1 cells is recogn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec4cd2298e81e1095d89a2522a2705b2
https://doi.org/10.1093/hmg/10.1.69
https://doi.org/10.1093/hmg/10.1.69
Publikováno v:
Journal of Neurochemistry. 73(2):700-711
Classical late-infantile neuronal ceroid lipofuscinosis (LINCL), a progressive and fatal neurodegenerative disease of childhood, results from mutations in a gene (CLN2) that encodes a protein with significant sequence similarity to prokaryotic pepsta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ffc14e99e1100c0d23f6da9b4b6249
https://researchportal.unamur.be/en/publications/e3d6c5d8-9433-4325-ba6a-eeceeea9e75d
https://researchportal.unamur.be/en/publications/e3d6c5d8-9433-4325-ba6a-eeceeea9e75d
Autor:
Bryan Winchester, Y V Voznyi, Coriene E. Catsman-Berrevoets, Elisabeth Young, J. L. M. Keulemans, O. P. van Diggelen, G.M.S. Mancini, W. J. Kleijer
Publikováno v:
Journal of Medical Genetics, 36, 471-474. BMJ Publishing Group
Palmitoyl-protein thioesterase (PPT) deficiency was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The available enzyme assay is complicated and impractical for diagnostic use and is, in practice, unavaila
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39f5c8def704b5283718a0b61c0b4ba2
https://doi.org/10.1136/jmg.36.6.471
https://doi.org/10.1136/jmg.36.6.471
Autor:
Leena Peltonen, Juhani Rapola, Pirkko Santavuori, Hellsten E, Jouni Vesa, Linda A. Verkruyse, Laura A. Camp, Sandra L. Hofmann
Publikováno v:
Nature. 376:584-587
NEURONAL ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children which have a global incidence of 1 in 12,500 (ref. 1). These severe brain diseases are divided into three autosomal recessive subtypes, assigned
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc3453677f9ab62f847d0ae014e9906
https://doi.org/10.1038/376584a0
https://doi.org/10.1038/376584a0