41. Infantil Neuronal Ceroid-lipofuscinos - Små Och Mindre Kända Handikappgrupper The neuronal ceroid lipofuscinoses. Semin Ped Neur 1996; 3 270278. Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis. http://www.sos.se/smkh/1997-29-023/1997-29-023.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Infantil neuronal ceroid-lipofuscinos INCL Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2002-11-07 HTML-version 4.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan palmityol-protein-thiosterase, PPT Symtom Diagnostik - DNA-analys av blodprov PPT-enzymet Praktiska tips Resurspersoner Kurser, erfarenhetsutbyte, rekreation

42. GeneTests: Search Results Lipofuscinosis, Gypsy/Indian, Early Juvenile Variant CLN7Related Neuronal Ceroid-Lipofuscinosis neuronal ceroid lipofuscinosis, Turkish Variant CLN8-Related http://www.genetests.org/query?mim=256730

43. Blackwell Synergy - Cookie Absent J., Santavuori, P., Hofmann, SL, Peltonen, L. (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. http://www.blackwell-synergy.com/servlet/useragent?func=synergy&synergyAction=sh

44. Blackwell Synergy - Cookie Absent A Lysosomal Proteinase, the Late Infantile neuronal ceroid lipofuscinosis Gene (CLN2) Product, Is Essential for Degradation of a Hydrophobic Protein, the http://www.blackwell-synergy.com/links/doi/10.1046/j.1471-4159.1999.0722573.x/ab

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45. CLN2 Translate this page CM990365, 66, gCAG-TAG, Gln-Term, neuronal ceroid lipofuscinosis, late infantile, 1. CM990366, 77, cGGA-AGA, Gly-Arg, neuronal ceroid lipofuscinosis, late infantile, 1. http://archive.uwcm.ac.uk/uwcm/mg/ns/1/125228.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference gCAG-TAG Gln-Term Neuronal ceroid lipofuscinosis, late infantile cGGA-AGA Gly-Arg Neuronal ceroid lipofuscinosis, late infantile CGA-CAA Arg-Gln Neuronal ceroid lipofuscinosis, late infantile cCGA-TGA Arg-Term Neuronal ceroid lipofuscinosis, late infantile gTCC-CCC Ser-Pro Neuronal ceroid lipofuscinosis, juvenile CCC-CTC Pro-Leu Neuronal ceroid lipofuscinosis, late infantile cCGT-TGT Arg-Cys Neuronal ceroid lipofuscinosis, late infantile gCGA-TGA Arg-Term Neuronal ceroid lipofuscinosis, late infantile TCA-TGA Ser-Term Neuronal ceroid lipofuscinosis, late infantile tGTG-ATG Val-Met Neuronal ceroid lipofuscinosis, late infantile CAG-CCG Gln-Pro Neuronal ceroid lipofuscinosis, late infantile GGT-GTT Gly-Val Neuronal ceroid lipofuscinosis, late infantile AAC-AGC Asn-Ser Neuronal ceroid lipofuscinosis, late infantile ATC-AAC Ile-Asn Neuronal ceroid lipofuscinosis, late infantile tGAG-AAG Glu-Lys Neuronal ceroid lipofuscinosis, late infantile

46. CLN3 Translate this page CM970329, 101, CTC-CCC, Leu-Pro, neuronal ceroid lipofuscinosis, juvenile, 1. CM970330, 161, TCA-TGA, Ser-Term, neuronal ceroid lipofuscinosis, juvenile, 1. http://archive.uwcm.ac.uk/uwcm/mg/ns/1/120593.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference CTC-CCC Leu-Pro Neuronal ceroid lipofuscinosis, juvenile TCA-TGA Ser-Term Neuronal ceroid lipofuscinosis, juvenile TCA-TGA Ser-Term Neuronal ceroid lipofuscinosis, juvenile CTC-CCC Leu-Pro Neuronal ceroid lipofuscinosis, juvenile GGG-GCG Gly-Ala Neuronal ceroid lipofuscinosis, juvenile TACc-TAA Tyr-Term Neuronal ceroid lipofuscinosis, protracted gCAG-TAG Gln-Term Neuronal ceroid lipofuscinosis, juvenile cGAG-AAG Glu-Lys Neuronal ceroid lipofuscinosis, juvenile cGAG-TAG Glu-Term Neuronal ceroid lipofuscinosis, juvenile cCAG-TAG Gln-Term Neuronal ceroid lipofuscinosis, juvenile cGTC-TTC Val-Phe Neuronal ceroid lipofuscinosis, juvenile cCGC-TGC Arg-Cys Neuronal ceroid lipofuscinosis, juvenile CGC-CAC Arg-His Neuronal ceroid lipofuscinosis, juvenile gCAG-TAG Gln-Term Neuronal ceroid lipofuscinosis, juvenile References 1 - Munroe (1997) Am J Hum Genet 2 - Taschner (2001) CLN3 Locus-specific database Unpublished data 3 - Sarpong (2001) CLN3 Locus-specific database Unpublished data 4 - Zhong (2000) Genet Med HGMD

47. Karger Publishers Ultrastructure of the Retina in Adult neuronal ceroid lipofuscinosis HH Goebel a , SS Schochet b , M. Jaynes b , L. Gutmann b a Department of Neuropathology http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowAbstract&ProduktNr=

48. NCL Publications Adult neuronal ceroid lipofuscinosis with palmitoylprotein thioesterase deficiency first adult-onset patients of a childhood disease. Ann Neurol. http://www.bsrt.org.uk/ncl-publications.htm

NOTE: These articles by no means represent the many publications on NCL. Not all articles have direct links it is suggested going to either Medline or PubMed to search for the authors and get them that way, or go straight to the journal. Scroll down or pick a sub-category Pub Med General/NCL CLN1/INCL CLN2/LINCL CLN3/JNCL CLN4/ANCL CLN5/fvLINCL CLN8/EPMR Study Finds Autoimmune Link In Juvenile Batten Disease. Chattopadhyay S, Ito M, Cooper JD, Brooks AI, Curran TM, Powers JM, Pearce DA. "An Autoantibody Inhibitory to Glutamic Acid Decarboxylase in the Neurodegenerative Disorder Batten Disease." Human Molecular Genetics, June 1, 2002, Vol.11, No. 12, pp. 1421-1431. http://www.ninds.nih.gov/news_and_events/pressrelease_batten_052202.htm General/NCL Wisniewski KE. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology. 2001 Aug 28;57(4):576-81. Review. Gardiner RM. The molecular genetic basis of the neuronal ceroid lipofuscinoses. Neurol Sci. 2000;21(3 Suppl):S15-9. Review.

49. Dr. Hofmann , Dr. Sandra Hofmann, Dr. Sandra Hofmann of a new lysosomal enzyme, palmitoylprotein thioesterase, that is defective in a neuronal degenerative disorder, infantile neuronal ceroid lipofuscinosis. http://www8.utsouthwestern.edu/UTSW/FacDir/CDA/FindAFaculty/Results/FacDir_FacSe

Advanced Search document.write(hashTable['Home'].parentMenu) //Second level child document.write(hashTable['Faculty Directory'].subMenu) Home Sandra Hofmann Search for Faculty Search for Doctor Sandra Hofmann, M.D., Ph.D. Research Details Name: Sandra Lee Hofmann, M.D., Ph.D. Academic Title: Professor Administrative Title: Interim Chief, Division of Hematology/Oncology Primary Appointment: Internal Medicine - Hematology Secondary Appointment: Molecular Genetics School: Southwestern Medical School Graduate School of Biomedical Sciences Degree Program: Cell Regulation Integrative Biology Affiliations: The Harold C. Simmons Comprehensive Cancer Center Hamon Center for Therapeutic Oncology Lab Website: Sandra L. Hofmann, M.D., Ph.D. Email: Sandra Hofmann, M.D., Ph.D. RESEARCH OVERVIEW The major emphasis in the laboratory is on the covalent lipid modifications of proteins. This work has led to the discovery of a new lysosomal enzyme, palmitoyl-protein thioesterase, that is defective in a neuronal degenerative disorder, infantile neuronal ceroid lipofuscinosis. This disease has been considered to be a model for aging because lipofuscinosis occurs in all tissues with advancing age in normal people. Current work involves the enzymology and molecular genetics of this and related enzymes and how deficiencies in lysosomal thioesterases leads to neuronal death. RESEARCH INTERESTS Protein Lipidation Neuronal Ceroid Lipofuscinosis (Batten Disease) Oncogenesis RECENT PUBLICATIONS Hofmann SL, Peltonen L., "The Neuronal Ceroid Lipofuscinoses." Metabolic and Molecular Bases of Inherited Disease 8th Edition. (Scriver CR, Beaudet AL, Sly WS, Valle D. eds) McGraw-Hill (New York), 3877-3894, 2001

50. BENCHMARK Analysis Of Infantile Neuronal Ceroid Lipofuscinosis BENCHMARK analysis of infantile neuronal ceroid lipofuscinosis, G2D Home. GO TO http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?010

51. References For Infantile Neuronal Ceroid Lipofuscinosis With The References for infantile neuronal ceroid lipofuscinosis with the MeSH term Lysosomal Storage Diseases, G2D Home. PMID and date. Follow http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Lysosomal_Storage_Di

52. David Palmer Mutational analysis of the defective protease in the classical lateinfantile neuronal ceroid lipofuscinosis, a degenerative lysosomal storage disorder. http://www.lincoln.ac.nz/afs/profiles/palmerd.htm

53. NINDS Batten Disease Information Page NINDS is part of the National Institutes of Health. NINDS Batten Disease Information Page Synonym(s) neuronal ceroid lipofuscinosis Reviewed 0701-2001 http://www.ninds.nih.gov/health_and_medical/disorders/batten.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Batten Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Batten Disease Information Page Synonym(s): Neuronal Ceroid Lipofuscinosis Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Batten Disease? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Batten Disease? Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.

54. HNRCA : Neuronal Ceroid Lipofuscinosis (nclf), A New Disorder Of The Mouse Linke neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. Am J Med Genet 1998;7728997. Log Number, 392. http://hnrcwww.hnrc.tufts.edu/publications/detail.php?id=392

55. The Neuronal Ceroid Lipofuscinoses In Human EPMR And Mnd Mutant Bronson, RT, Lake, BD, Cook, S., Taylor, S. Davisson, MT Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten s disease). http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v23/n2/full/ng1099_2

56. CLN5, A Novel Gene Encoding A Putative Transmembrane Protein 3 pp 286 288 CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v19/n3/abs/ng0798_28

57. David Andrew Pearce Faculty Page Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease. http://dbb.urmc.rochester.edu/bcbp/members/faculty/Pearce_David.html

More Faculty Profiles Return to Research Areas Graduate Program Information My Contact Information Assistant Professor of Biochemistry and Biophysics Ph.D. University of Bath 1990 Yeast and Mouse Models for the Study of Human Disease. Dr. Pearce uses yeast and mouse models for the study of childrens neurodegenerative diseases. We are also studying a mouse that lacks the mouse equivalent of CLN3, and are in the process of characterizing the degeneration specific to lacking this protein, utilizing a variety of histological and molecular biological techniques including microarray studies. Visit my Lab Page Recent Publications Sappington RM, Pearce DA, Calkins DJ (2003) Optic nerve degeneration in a murine model of juvenile ceroid lipofuscinosis. Invest Ophthalmol Vis Sci Chattopadhyay S, Roberts PM, Pearce DA (2003) The yeast model for Batten disease: a role for Btn2p in the trafficking of the Golgi-associated vesicular targeting protein, Yif1p. Biochem Biophys Res Commun Elshatory Y, Brooks AI, Chattopadhyay S, Curran TM, Gupta P, Ramalingam V, Hofmann SL, Pearce DA (2003) Early changes in gene expression in two models of Batten disease.

58. Current Molecular Medicinal Volume 2, Number 5, 2002 Positional cloning efforts of genes mutated in Batten disease and in the Finnish type of variant late infantile neuronal ceroid lipofuscinosis resulted in the http://www.bentham.org/cmm/cmm2-5.htm

[Back to Contents Page] [Back to Home Page] Current Molecular Medicine Volume 2, Number 5, 2002 Contents The Expanding Spectrum of Lysosomal Storage Disorders Executive Editor: Sandra L. Hofmann Pycnodysostosis: Role and Regulation of Cathepsin K in Osteoclast Function and Human Disease Pp.407-421 Gabriela Motyckova and David E. Fisher [Abstract] Neuronal Ceroid Lipofuscinoses Caused by Defects in Soluble Lysosomal Enzymes (CLN1 and CLN2) Pp.423-437 Sandra L. Hofmann, Armita Atashband, Steve K. Cho,Amit K. Das, Praveena Gupta and Jui-Yun Lu [Abstract] Mutated Genes in Juvenile and Variant Late Infantile Neuronal Ceroid Lipofuscinoses Encode Lysosomal Proteins Pp.439-444 Jouni Vesa and Leena Peltonen [Abstract] The Molecular Basis of Mucolipidosis Type IV Pp.445-450 Susan A. Slaugenhaupt [Abstract] Disorders of Vesicles of Lysosomal Lineage:The Hermansky-Pudlak Syndromes Pp.451-467 Marjan Huizing and William A. Gahl [Abstract] Chediak-Higashi Syndrome: a Clinical and Molecular View of a Rare Lysosomal Storage Disorder Pp.469-477

59. Arquivos De Neuro-Psiquiatria - Infantile neuronal ceroid lipofuscinosis ? 7 cases (Table 2). Clinical findings. 1. Goebel HH. Morphologic diagnosis in neuronal ceroid lipofuscinosis. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000400001&l

60. Human Protein: O75503 - Ceroid-lipofuscinosis Neuronal Protein 5 (CLN5 Protein). Lander,ES, Peltonen,L., CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. http://harvester.embl.de/harvester/O755/O75503.htm

Human protein: O75503 - Ceroid-lipofuscinosis neuronal protein 5 (CLN5 protein). EMBL FORUM Length: 407 aa , molecular weight: 46339 Da , CRC64 checksum: MRRNLRLGPS SGADAQGQGA PRPGLAAPRM LLPPASQASR GSGSTGCSLM AQEVDTAQGA 60 EMRRGAGAAR GRASWCWALA LLWLAVVPGW SRVSGIPSRR HWPVPYKRFD FRPKPDPYCQ 120 AKYTFCPTGS PIPVMEGDDD IEVFRLQAPV WEFKYGDLLG HLKIMHDAIG FRSTLTGKNY 180 TMEWYELFQL GNCTFPHLRP EMDAPFWCNQ GAACFFEGID DVHWKENGTL VQVATISGNM 240 FNQMAKWVKQ DNETGIYYET WNVKASPEKG AETWFDSYDC SKFVLRTFNK LAEFGAEFKN 300 IETNYTRIFL YSGEPTYLGN ETSVFGPTGN KTLGLAIKRF YYPFKPHLPT KEFLLSLLQI 360 FDAVIVHKQF YLFYNFEYWF LPMKFPFIKI TYEEIPLPIR NKTLSGL 407 // UniProt ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 37, 15-DEC-1998 Sequence update Rel. 37, 15-DEC-1998 Annotation update Rel. 42, 10-OCT-2003 Description and origin of the Protein Description Ceroid-lipofuscinosis neuronal protein 5 (CLN5 protein). Gene name(s) Organism source Homo sapiens (Human).

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