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Neuronal Ceroid Lipofuscinosis: more detail

Lysosomal Storage Diseases: Tay-Sachs Disease, Canavan Disease, Sly Syndrome, Neuronal Ceroid Lipofuscinosis, Mucopolysaccharidosis
The dissection of a degenerative disease: Proceedings of four round-table conferences on the pathogenesis of Batten's disease (neuronal ceroid-lipofuscinosis)
Lipofuscin and Ceroid Pigments (Advances in Experimental Medicine and Biology)
Batten Disease: Diagnosis, Treatment, and Research, Volume 45 (Advances in Genetics)
The Official Parent's Sourcebook on Batten Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18
Lipofuscin and Ceroid Pigments: State of the Art 1995 (Journal - Gerontology, , Vol 41, Suppl. 2) (Pt.2)
Dogs help track down genes.(MEDICAL UPDATE: Cutting-edge news from a source you can trust)(Batten disease): An article from: Saturday Evening Post
Batten disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Michelle lee Brandt, Rosalyn, MD Carson-Dewitt, 2005
Batten disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Michelle Brandt, 2005
Batten disease (SuDoc HE 20.3502:B 32) by U.S. Dept of Health and Human Services, 1992

lists with details

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

Extractions: 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.
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
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
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
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

Extractions: Clinical Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Clinical Resources Pediatrics Genetics Clinical Guidelines Clinical Trials ... Miscellaneous Resources See also: Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Pediatrics Resources See also General Pediatrics Resources Genetics Resources See also General Genetics Resources Clinical Guidelines National Guideline Clearinghouse: MeSH browse Detailed search Metabolism, Inborn Errors (MeSH browse):
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

Extractions: 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).
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

Extractions: Oxford University Press 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.
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

Extractions: Oxford University Press 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
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

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

Extractions: 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 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).
NeuroGate.com
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http://www.neurogate.com/neuro/result.php3?search=Neuronal Ceroid-Lipofuscinosis
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
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
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
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/

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