61. Human Protein: Q9NWW5 - Ceroid-lipofuscinosis Neuronal Protein 6 (CLN6 Protein). D., Haines,JL, Lerner,TJ, MacDonald,ME, Mutations in a novel CLN6encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. http://harvester.embl.de/harvester/Q9NW/Q9NWW5.htm

Human protein: Q9NWW5 - Ceroid-lipofuscinosis neuronal protein 6 (CLN6 protein). EMBL FORUM Length: 311 aa , molecular weight: 35919 Da , CRC64 checksum: MEATRRRQHL GATGGPGAQL GASFLQARHG SVSADEAART APFHLDLWFY FTLQNWVLDF 60 GRPIAMLVFP LEWFPLNKPS VGDYFHMAYN VITPFLLLKL IERSPRTLPR SITYVSIIIF 120 IMGASIHLVG DSVNHRLLFS GYQHHLSVRE NPIIKNLKPE TLIDSFELLY YYDEYLGHCM 180 WYIPFFLILF MYFSGCFTAS KAESLIPGPA LLLVAPSGLY YWYLVTEGQI FILFIFTFFA 240 MLALVLHQKR KRLFLDSNGL FLFSSFALTL LLVALWVAWL WNDPVLRKKY PGVIYVPEPW 300 AFYTLHVSSR H 311 // UniProt ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 42, 10-OCT-2003 Sequence update Rel. 42, 10-OCT-2003 Annotation update Rel. 43, 29-MAR-2004 Description and origin of the Protein Description Ceroid-lipofuscinosis neuronal protein 6 (CLN6 protein). Gene name(s) Organism source Homo sapiens (Human). Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.

62. Literature For Peptidase S53.003 is dependent on tripeptidyl peptidaseI implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis. http://merops.sanger.ac.uk/lit/s53p003_lit.htm

Literature for peptidase S53.003 Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity Glycobiology E-PUB PubMed Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I J Biol Chem PubMed A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases BMC Struct. Biol PubMed Structural and enzymatic properties of the sedolisin family of serine-carboxyl peptidases Acta Biochim Pol. PubMed N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I J Biol Chem E-PUB PubMed Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis Biochem J PubMed Tripeptidyl peptidase-I is essential for the degradation of sulphated cholecystokinin-8 (CCK-8S) by mouse brain lysosomes Neurosci Lett.

63. Clinical Study: 01-CH-0086, Pilot Study Of Cystagon As A Potential Therapy For I Title Pilot Study of Cystagon as a Potential Therapy for Infantile neuronal ceroid lipofuscinosis Number 01CH-0086 Summary This study will examine the http://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2001-CH-0086.html

64. Entrez PubMed Click here to read Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstra

65. Rural Nurse Organization Clinic Digital Library Clinical Resources by Topic Metabolic Disorders. neuronal ceroid lipofuscinosis Clinical Resources. neuronal ceroid lipofuscinosis Access document. http://ruralnurseorganization-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/li

Clinical Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Genetic Testing Clinical Resources Mental Retardation Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources ... Neuronal Ceroid Lipofuscinosis Patient/Family Resource Neurology (eMedicine): Table of contents Ataxia with Identified Genetic and Biochemical Defects: Access document Inherited Metabolic Disorders: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Neuronal Ceroid-Lipofuscinoses: Access document Pediatrics Resources See also General Pediatrics Resources Neurology (eMedicine): Table of contents Neuronal Ceroid Lipofuscinosis: Access document Genetics Resources See also General Genetics Resources Online Mendelian Inheritance in Man: Homepage Neuronal Ceroid Lipofuscinosis 1: Access document Neuronal Ceroid Lipofuscinosis 2: Access document Neuronal Ceroid Lipofuscinosis 3: Access document Neuronal Ceroid Lipofuscinosis 4: Access document Neuronal Ceroid Lipofuscinosis 5: Access document Neuronal Ceroid Lipofuscinosis 6: Access document Clinical Guidelines National Guideline Clearinghouse: MeSH browse Detailed search Metabolism, Inborn Errors (MeSH browse):

66. SUP: July 1998 Case Of The Month Diagnosis neuronal ceroid lipofuscinosis, late infantile type. Discussion Goebel HH, Morphologic Diagnosis in neuronal ceroid lipofuscinosis. http://sup.ultrakohl.com/Cases98/Jul98/jul98p2.htm

July 1, 1998 Electron Microscopy in a Child with Seizures Sections Clinical History Light and Electron Microscopy Reader Feedback Diagnosis: Neuronal ceroid lipofuscinosis, late infantile type Discussion: The neuronal ceroid lipofuscinoses are a group of progressive encephalopathies which are inherited in an autosomal recessive manner. Four main types are recognized: infantile, late infantile, juvenile and adult. Morphologically they are characterized by widespread accumulation of autofluorescent lipopigments inside and outside the central nervous system. In the infantile type the lipopigments are granular. The late infantile type shows characteristic curvilinear profiles. Fingerprint profiles are seen in the classical juvenile type while the adult type can be somewhat variable showing granular material and/or fingerprint profiles. Many cell types contain the abnormal inclusions including endothelial cells and amniotic fluid cells. This has allowed for prenatal diagnosis in some subtypes by ultrastructural examination of uncultured amniotic cells (late infantile type) and endothelial cells of biopsied chorionic stromal vessels (infantile type) (1). Immunohistochemical studies have shown the accumulation of the subunit C of mitochondrial ATPase in the late infantile, juvenile and occassionally the adult type. Accumulation of sphingolipid activator proteins saposins A and D has been shown in the infantile type and to a lesser degree in the other subtypes (2).

67. Hum. Mol. Genet. -- Abstracts: Isosomppi Et Al. 11 (8): 885 Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. Juha Isosomppi 1 , Jouni Vesa 2 , Anu Jalanko 1 and Leena Peltonen 1 ,2 ,* http://hmg.oupjournals.org/cgi/content/abstract/11/8/885

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Full Text of this Article PDF Version of this Article Email this article to a friend Similar articles found in: Hum. Mol. Genet. Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Isosomppi, J. Peltonen, L. Alert me when: new articles cite this article Download to Citation Manager Human Molecular Genetics, 2002, Vol. 11, No. 8 Oxford University Press Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein Juha Isosomppi Jouni Vesa Anu Jalanko and Leena Peltonen Department of Molecular Medicine, National Public Health Institute and Department of Medical Genetics, University of Helsinki, Center of Excellence in Disease Genetics of the Academy of Finland, Biomedicum, PL 104, FIN-00251 Helsinki, Finland and Department of Human Genetics, UCLA School of Medicine, Gonda Neuroscience and Genetics Research Center, Los Angeles, CA 90095-7088, USA The Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL) belongs to the neuronal ceroid lipofuscinosis group of common recessively inherited neurodegenerative disorders.

68. Hum. Mol. Genet. -- Abstracts: Lonka Et Al. 9 (11): 1691 9, No. 11 16911697 © 2000 Oxford University Press The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. http://hmg.oupjournals.org/cgi/content/abstract/9/11/1691

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Full Text of this Article PDF Version of this Article Email this article to a friend Similar articles found in: Hum. Mol. Genet. Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Lonka, L. Lehesjoki, A.-E. Alert me when: new articles cite this article Download to Citation Manager Human Molecular Genetics, 2000, Vol. 9, No. 11 Oxford University Press The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum Liina Lonka Susanna Ranta Anu Jalanko and Anna-Elina Lehesjoki Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland and National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland Progressive epilepsy with mental retardation (EPMR) is a new member of the neuronal ceroid lipofuscinoses (NCLs). The gene underlying EPMR was recently identified. It encodes a novel

69. REFERENCES [J. Biochem. Vol. 128, Pp. 509-516 (2000)] 5, 2126 Medline; Rider, JA, Dawson, G., and Siakotos, AN (1992) Perspective of biochemical research in the neuronal ceroid lipofuscinosis. Am. J. Med. Genet. http://jb.bcasj.or.jp/128-3/3eyatprf.htm

Rider, J.A. and Rider D.L. (1988) Batten disease: Past, present, and future. Am. J. Med. Genet. Suppl. [Medline] Rider, J.A., Dawson, G., and Siakotos, A.N. (1992) Perspective of biochemical research in the neuronal ceroid lipofuscinosis. Am. J. Med. Genet. [Medline] Carpenter, S. (1988) Morphological diagnosis and misdiagnosis in Batten-Kufs disease. Am. J. Med. Genet. Suppl. [Medline] Vesa, J., Hellsten, E., Verkruyse, L.A., Camp, L.A., Rapola, J., Santavuori, P., Hofmann, S.L., and Peltonen, L. (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature [Medline] Hellsten, E., Vesa, J., Olkkonen, V.M., Jalanko, A., and Peltonen, L. (1996) Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and distributed cellular routing in infantile neuronal ceroid lipofuscinosis. EMBO J. [Medline] Sleat, D.E., Donnelly, R.J., Lackland, H., Liu, C.-G., Sohar, I., Pullarkat, R.K., and Lobel, P. (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science [Medline] The International Batten Disease Consortium (1995) Isolation of novel gene underlying Batten disease, CLN3.

70. MGI 3.0 - MLC (Cln6, Ceroid-lipofuscinosis, Neuronal 6) References J47292, Bronson RT; Donahue LR; Johnson KR; Tanner A; Lane PW; Faust JR, neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked http://www.informatics.jax.org/searches/mlc.cgi?79403

71. Swiss-Prot Keyword: Neuronal Ceroid Lipofuscinosis OMIM CEROID LIPOFUSCINOSIS, NEURONAL 5; CLN5 http://ca.expasy.org/cgi-bin/get-entries?KW=Neuronal ceroid lipofuscinosis

72. Disruption Of PPT1 Or PPT2 Causes Neuronal Ceroid Lipofuscinosis In Knockout Mic 251485198 Biochemistry Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Praveena Gupta, * Abigail http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=61081&rendertype=abstr

73. WORLD, The Lysosomal Diseases - The University Of Minnesota neuronal ceroid lipofuscinosis, CLN1. Batten disease. Palmitoyl protein thioesterase. neuronal ceroid lipofuscinosis, CLN2. Batten disease. Tripeptidyl pepetidase 1. http://www.ahc.umn.edu/ahc_content/colleges/med_school/departments/Pediatrics/Pe

74. HONselect - Neuronal Ceroid-Lipofuscinosis Accepted terms English neuronal ceroidlipofuscinosis - Batten Disease - ceroid-lipofuscinosis, neuronal - Jansky-Bielschowsky http://www.hon.ch/HONselect/RareDiseases/C10.574.500.550.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Neuronal Ceroid-Lipofuscinosis - Batten Disease - Ceroid-Lipofuscinosis, Neuronal - Jansky-Bielschowsky Disease - Kufs Disease - Spielmeyer-Vogt Disease - Adult Neuronal Ceroid Lipfuscinosis Français: CEROIDE LIPOFUSCHINOSE NEURONALE Deutsch: Neuronale Zeroidlipofuszinose - Batten-Krankheit - Dollinger-Bielschowsky-Syndrom - Kuf-Syndrom - Spielmeyer-Vogt-Krankheit - Zeroid-Lipofuszinose, neuronale - Ceroid-Lipofuszinose Español: LIPOFUSCINOSIS CEROIDE NEURONAL - ENFERMEDAD DE BATTEN - LIPOFUSCINOSIS NEURONAL CEROIDE - ENFERMEDAD DE JANSKY-BIELSCHOWSKY - ENFERMEDAD DE KUFS - ENFERMEDAD DE SPIELMEYER-VOGT Português: LIPOFUSCINOSE CEROIDE NEURONAL - DOENCA DE BATTEN - LIPOFUSCINOSE NEURONAL CEROIDE - DOENCA DE JANSKY-BIELSCHOWSKY - DOENCA DE KUFS - DOENCA DE SPIELMEYER-VOGT HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français Yes Deutsch No Español Yes Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.574.500.550.html

75. AllRefer Health - Neuronal Ceroid Lipofuscinoses (NCLS) (Batten Disease, Jansky- neuronal ceroid Lipofuscinoses (NCLS) (Batten Disease, JanskyBielschowsky, Kufs Disease, Lipofuscinoses, Spielmeyer-Vogt) information center covers causes http://health.allrefer.com/health/lipofuscinosis-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Neuronal Ceroid Lipofuscinoses (NCLS) Neuronal Ceroid Lipofuscinoses (NCLS) Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Batten Disease, Jansky-Bielschowsky, Kufs' Disease, Lipofuscinoses, Spielmeyer-Vogt Definition The neuronal ceroid lipofuscinoses (NCLS) are a group of rare, inherited neurodegenerative disorders. They associated with the accumulation of an abnormal pigment in the brain called lipofuscin. These disorders can be associated with severe diseases including blindness, mental retardation, and early death. There are three main types, depending on the age it begins late infantile (Jansky-Bielschowsky), juvenile (Batten disease), and adult (Kufs or Parry's disease).

76. NeuroGate.com Search results for "neuronal ceroidlipofuscinosis" NO MATCHES FOUND-Please select a different keyword or Search AltaVista for 'neuronal ceroid-lipofuscinosis' Global Search http://www.neurogate.com/neuro/result.php3?search=Neuronal Ceroid-Lipofuscinosis

77. GeneReviews: Neuronal Ceroid-Lipofuscinosis Your browser does not support HTML frames so you must view neuronal ceroidlipofuscinosis in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/ncl/?Lng=GB

78. PharmGKB: Neuronal Ceroid-Lipofuscinosis Search PharmGKB sign in help feedback. neuronal ceroidlipofuscinosis. Alternate Names Juvenile; ceroid lipofuscinosis, neuronal; ceroid-lipofuscinosis, neuronal; Degeneration, Juvenile http://www.pharmgkb.org/do/serve?objId=PA445110&objCls=Disease

79. Ceroid Lipofuscinosis, Neuronal 1, Infantile Information Diseases Database ceroid lipofuscinosis, neuronal 1, infantile,neuronal ceroid lipfuscinosis, infantile,SantavuoriHaltia disease, Disease Database Information. http://www.diseasesdatabase.com/ddb31533.htm

Diseases Database Index Sponsors Contact ... Previous Page Ceroid lipofuscinosis, neuronal 1, infantile Information Search 3 synonyms or equivalents were found. Ceroid lipofuscinosis, neuronal 1, infantile aka/or Neuronal ceroid lipfuscinosis, infantile aka/or Santavuori-Haltia disease may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) No UMLS definitions Ceroid lipofuscinosis, neuronal 1, infantile: specific sites Send Ceroid lipofuscinosis, neuronal 1, infantile to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-03 01:12:20 Metadata Updated 2004-05-22

80. Neuronal Ceroid-Lipofuscinosis At Diseasebooks.com neuronal ceroidlipofuscinosis - Shop for 1 neuronal ceroid-lipofuscinosis items available with reviews, descriptions, and more information. http://diseasebooks.com/n/Neuronal_Ceroid_Lipofuscinosis/

AMAZON.COM Search All Products Electronics Books Classical Music DVD Kitchen Popular Music Software Toys VHS Video Video Games Enter keywords: K-Web Internet Stores Internet Mall Discount Toy Store Nautical Books And Equipment MusicBooks, CD's DVD's ... Exercise Equipment And Gear Medical Sites Raymond E. Cole D.O. Dr.Najeeb Layyous Bookdigger Medical Books Health Supply Store ... Software Store NOTICE : All prices, availability, and specifications are subject to verification by their respective retailers. Privacy Policy info@diseasebooks.com Last Modified : 5-29-2004 Neuronal Ceroid-Lipofuscinosis Purchase the most popular and in-stock Neuronal Ceroid-Lipofuscinosis and related Disease Books here! Choose from 1 Neuronal Ceroid-Lipofuscinosis items available as of 5-29-2004. Get product descriptions, prices, reviews, and more information by clicking on any item. Thank you for shopping at Diseasebooks.com. Disease Books Batten Disease: Diagnosis, Treatment, Research (Advances in Genetics, Vol 45) by Krystyna Wisniewski (Author), Nanbert Zhong (Author) (Hardcover - February 2001) at Amazon Disease Books Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: NOTICE: All product prices, availability, and specifications

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