21. 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

22. Neuronal Ceroid Lipofuscinosis click For Medical Professionals only. neuronal ceroid lipofuscinosis,,Print this article, inherited lysosomal degenerative disease http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/neuronal ceroid lipofus

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Neuronal ceroid lipofuscinosis, inherited lysosomal degenerative disease characterized by an abnormal sphingolipid metabolism (see lysosomal diseases ). Four types are usually identified: infantile, late infantile, juvenile and adult. Eponyms for the different forms are: Santavuori disease, Jansky – Bielchowsky disease, Spielmeyer – Vogt or Batten disease, Kufs' disease. Clinically a whole range of symptoms is found, including delayed psychomotor development, ataxia, hypotonia, choreoathetosis, epilepsy and visual failure. The grey matter is mainly affected and nonselective diffuse cerebral and cerebellar cortical atrophy is the MR finding; abnormal T2 hyperintensity of the white matter may also be found. GS The Encyclopaedia of Medical Imaging Volume VI:1 Welcome to Medcyclopaedia.

23. Short Description Of Cell Lines. Pathology: Amaurotic Family Idiocy, Juvenile Ty Version 4.200205, Short description of cell lines. Pathology amaurotic familyidiocy, juvenile type/neuronal ceroid lipofuscinosis *204200 OMIM record. http://www.biotech.ist.unige.it/cldb/pat269.html

Version Short description of cell lines. Pathology: amaurotic family idiocy, juvenile type/neuronal ceroid lipofuscinosis OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

24. Laura Åberg: Uvenile Neuronal Ceroid Lipofuscinosis; Brain-related Symptoms And University of Helsinki, Helsinki 2001. Juvenile neuronal ceroid lipofuscinosis;brainrelated symptoms and their treatment. Laura Åberg. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/aberg/

University of Helsinki, Helsinki 2001 Juvenile neuronal ceroid lipofuscinosis; brain-related symptoms and their treatment Laura Åberg Academic Dissertation, September 2001. University of Helsinki, Faculty of Medicine, Department of Child Neurology and Department of Radiology As a PDF file ISBN 952-10-0123-2 Last update 28.8.2001/TL

25. Tab004mgu: Genetics Of The Neuronal Ceroid Lipofuscinoses (NCLs) 90 Jarvela, I. et al. (1991) Infantile form of neuronal ceroid lipofuscinosis(CLN1) maps to the short arm of chromosome 1. Genomics 9, 170173, PubMed. http://www-ermm.cbcu.cam.ac.uk/99001386h.htm

Expert Reviews in Molecular Medicine: http://www-ermm.cbcu.cam.ac.uk Accession information: (99)00138-6h.htm (shortcode: tab004mgu); 10 December 1999 Reprint/PDF version Discussion Group Back to main article Genetics of the neuronal ceroid lipofuscinoses (NCLs) Louise Bate and Mark Gardiner Author contact details Table 4. Genetics of the neuronal ceroid lipofuscinoses (NCLs) (tab004mgu) Type of NCL Age of onset and Refs Infantile GROD ; 1p32; lysosomal palmitoyl-protein thioesterase (PPT), which removes lipid from proteins during their degradation. Late infantile (classical) CVB Finnish late infantile Variant late infantile FPP or CVB Turkish variant late infantile FPP or CVB Late infantile with GROD ; 1p32; lysosomal PPT, which removes lipid from proteins during their Juvenile Variant juvenile Progressive epilepsy with mental retardation FPP or CVB or GROD Abbreviations used: CVB = curvilinear body; FPP = fingerprint profile; GROD = granular osmophillic deposits.

26. Retina International's Scientific Newsletter - Ceroid Lipofuscinosis Loci CH, Stephenson,JB, and O'Rawe,AM Mutations In The PalmitoylProtein ThioesteraseGene (PPT CLN1) Causing Juvenile neuronal ceroid lipofuscinosis With Granular http://www.retina-international.org/sci-news/cerlip.htm

Retina International's Scientific Newsletter Disease Database Ceroid Lipofuscinosis Recent update from: 08.02.01 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References Ceroid-lipofuscinosis neuronal 1 infantile INCL GROD PPT ar Ceroid-lipofuscinosis neuronal 3 Batten disease Spielmeyer-Vogt-Sjögren disease JCNL ar MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References . Anonymous Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. 1995; Cell. 82: 949-957. Link to PudMed Goto Top . Gerber,S., Odent,S., Postel Vinay,A., Janin,N., Dufier,J.L., Munnich,A., Frezal,J., and Kaplan,J. Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses. 1994; J.Med.Genet. 31: 222-223. Goto Top . Janes,R.W., Munroe,P.B., Mitchison,H.M., Gardiner,R.M., Mole,S.E., and Wallace,B.A. A model for Batten disease protein CLN3: functional implications from homology and mutations. 1996; FEBS Lett. 399: 75-77. Goto Top . Mitchison,H.M., Hofmann,S.L., Becerra,C.H.R., Munroe,P.B., Lake,B.D., Crow,Y.J., Stephenson,J.B.P., Williams,R.E., Hofman,I.L., Taschner,P.E.M., Martin,J.J., Philippart,M., Andermann,E., Andermann,F., Mole,S.E., Gardiner,R.M., Orawe,A.M., Becerra,C.H., Stephenson,J.B., and O'Rawe,A.M. Mutations In The Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis With Granular Osmiophilic Deposits. 1998; Hum.Mol.Genet. 7: 291-297.

27. Neuronal Ceroid Lipofuscinosis Clinical Resources neuronal ceroid lipofuscinosis Clinical Resources. neuronal ceroid lipofuscinosisAccess document. Pediatric Database (PEDBASE) List of documents http://baptistnashville-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/lipoidos

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 Inherited Metabolic Disorders: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Neuronal Ceroid-Lipofuscinoses: Access document CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Neuronal Ceroid-Lipofuscinoses: List of documents Pediatrics Resources See also General Pediatrics Resources Neurology (eMedicine): Table of contents Neuronal Ceroid Lipofuscinosis: Access document Pediatric Database (PEDBASE) List of documents 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):

28. NORD - National Organization For Rare Disorders, Inc. View Cart/Checkout. Copyright 1997, 1998, 1999 Synonyms of Santavuori Disease CLN1;INCL; Infantile Finnish Type neuronal ceroid lipofuscinosis (Balkan Disease); http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Santavuori Di

29. UASOM Main Digital Library Metabolic Disorders. neuronal ceroid lipofuscinosis Patient/Family Resources. Resources;neuronal ceroid lipofuscinosis Clinical Resources. Batten http://uasom-dl.slis.ua.edu/patientinfo/metabolism/inborn/lipid/lipoidosis/batte

Patient/Family Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Patient/Family Resources Spanish Miscellaneous See also: Mental Retardation Patient/Family Resources Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources ... Neuronal Ceroid Lipofuscinosis Clinical Resources Batten Disease Support and Research Association Homepage Batten Disease Facts and Fictions: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Batten Disease: Access document MEDLINE plus Medical Encyclopedia: Table of contents Amaurotic Familial Idiocy: English Spanish Spanish MEDLINE plus Medical Encyclopedia: Table of contents Amaurotic Familial Idiocy: English Spanish Miscellaneous Neuronal Ceroid Lipofuscinosis Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Batten Disease: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

30. Silver Hill Hospital Digital Library neuronal ceroid lipofuscinosis Clinical Resources. neuronal ceroid lipofuscinosisAccess document. Pediatric Database (PEDBASE) List of documents http://silverhillhospital-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/lipoid

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 Inherited Metabolic Disorders: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Neuronal Ceroid-Lipofuscinoses: Access document CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Neuronal Ceroid-Lipofuscinoses: List of documents Pediatrics Resources See also General Pediatrics Resources Neurology (eMedicine): Table of contents Neuronal Ceroid Lipofuscinosis: Access document Pediatric Database (PEDBASE) List of documents 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):

31. Neuronal Ceroid Lipofuscinosis - General Practice Notebook neuronal ceroid lipofuscinosis. Batten's syndrome is a recessively inheritedneurodegenerative condition involving a lysosomal storage defect. http://www.gpnotebook.co.uk/cache/2120941619.htm

neuronal ceroid lipofuscinosis Batten's syndrome is a recessively inherited neurodegenerative condition involving a lysosomal storage defect. It is caused by abnormal storage of cerebral lipofuscins. There are a number of other names that are used to refer to this condition, depending on the age of onset: Haltia-Santavuori syndrome, for the infantile type Jansky-Bielschowsky syndrome, for the late infantile type Spielmeyer-Vogt syndrome, for the juvenile type In addition this condition is sometimes known as familial amaurotic familial idiocy or as lipofuscinosis. The gene involved in this syndrome is on chromosome 16. Click here for more information...

32. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Neuronal+Ceroid-Lipofuscinosis Similar pages neuronal ceroid lipofuscinosis (CLN) Retardation (MCA/MR) Syndromes. View the Full Record Syndrome, neuronalceroid lipofuscinosis (CLN). Synonym, ceroid lipofuscinosis. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Neuronal Ceroid-Lipofuscinosis

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

Literature for S53.003 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. PubMed The substrate range of tripeptidyl-peptidase I Europ. J Paediatr. Neurol. 5 Suppl A PubMed Rat tripeptidyl peptidase 1: Molecular cloning, functional expression, tissue localization and enzymatic characterization Biol. Chem. PubMed Specific substrate for CLN2 protease/tripeptidyl-peptidase I assay Eur. J. Paediatr. Neurol. PubMed Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions J. Neuropathol. Exp. Neurol. PubMed First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis Prenat. Diagn.

34. Guam Medical Libraries Digital Libraries Program Patient/Family Resources by Topic Metabolic Disorders. NeuronalCeroid Lipofuscinosis Patient/Family Resources. Miscellaneous. http://guam-dl.slis.ua.edu/patientinfo/metabolism/inborn/lipid/lipoidosis/batten

Patient/Family Resources by Topic: Metabolic Disorders Neuronal Ceroid Lipofuscinosis Patient/Family Resources Spanish Miscellaneous See also: Mental Retardation Patient/Family Resources Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources ... Neuronal Ceroid Lipofuscinosis Clinical Resources Batten Disease Support and Research Association Homepage Batten Disease Facts and Fictions: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Batten Disease: Access document MEDLINE plus Medical Encyclopedia: Table of contents Amaurotic Familial Idiocy: English Spanish Spanish MEDLINE plus Medical Encyclopedia: Table of contents Amaurotic Familial Idiocy: English Spanish Miscellaneous Neuronal Ceroid Lipofuscinosis Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Batten Disease: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

35. Bibliography 8.Oka A, Kurachi Y, Mizuguchi M, Hayashi M, Takashima S (1998) The expression oflate infantile neuronal ceroid lipofuscinosis (CLN2) gene product in human http://link.springer-ny.com/link/service/journals/00401/contents/00/00321/paper/

References 1.Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248-254 2.Elleder M, Sokolova J, Hrebicek M (1997) Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders. Acta Neuropathol 93:379-390 3.Friede RL (1989) Ceroid-lipofuscinosis and miscellaneous lipidoses. In: Developmental neuropathology, 2nd edn. Springer-Verlag, Berlin Heidelberg, pp 448-460 4.Goebel HH, Schochet SS, Jaynes M, Bruck W, Kohlschutter A, Hentati F (1999) Progress in neuropathology of the neuronal ceroid lipofuscinoses. Mol Genet Metab 66:367-372 5.Kimura S, Goebel HH (1987) Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis. Brain Dev 9:576-580 6.Lake BD (1997) Lysosomal and peroxisomal disorders. In: Graham DI, Lantos PL (eds) Greenfield's neuropathology, 6th edn. Arnold, London, pp 668-676 7.Oka A, Takashima S (1997) Induction of cyclo-oxygenase 2 in brains of patients with Down's syndrome and dementia of Alzheimer type: specific localization in affected neurones and axons. Neuroreport 8:1161-1164

36. Abstract © SpringerVerlag 2001. Regular Paper. Distribution and development of CLN2protein, the late-infantile neuronal ceroid lipofuscinosis gene product. http://link.springer-ny.com/link/service/journals/00401/contents/00/00321/s00401

Regular Paper Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product Yukiko Kurachi , Akira Oka , Masayuki Itoh , Masashi Mizuguchi , Masaharu Hayashi and Sachio Takashima National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan Department of Pediatrics, University of Tokyo, Tokyo, Japan Division of Child Neurology, Institute of Neurological Sciences, Tottori University, Tottori, Japan Department of Pediatrics, Jichi Medical School, Tochigi, Japan Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Tokyo, Japan Abstract. Keywords. Distribution - Development - CLN2 - Immunohistochemistry - Immunoblotting E-mail: kurachi@ncnp.go.jp Fax: +81-42-346-1743

37. Batten Publications (Non- UR) - David Pearce Lab Page Adult neuronal ceroid lipofuscinosis with palmitoylprotein thioesterase deficiencyfirst adult-onset patients of a childhood disease. Ann Neurol. http://dbb.urmc.rochester.edu/labs/pearce/Battenpub_nonur.html

More Faculty Profiles Return to Research Areas Pearce Lab Graduate Program Information My Contact Information Batten Publications (other researchers) Lab Members Publications Faculty Page Batten Pubs (other researchers) Batten Links Niemann-Pick Project Job Opportunities General/NCL Wisniewski KE. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology. 2001 Aug 28 Review. Gardiner RM. The molecular genetic basis of the neuronal ceroid lipofuscinoses. Neurol Sci. 2000 (3 Suppl):S15-9. Review. Delgado-Escueta AV, Ganesh S, Yamakawa K. Advances in the genetics of progressive myoclonus epilepsy. Am J Med Genet. 2001 Feb http://www3.interscience.wiley.com/cgi-bin/abstract/85512492/START Goebel HH, Kohlschutter A. Dementia in the neuronal ceroid-lipofuscinoses. Adv Exp Med Biol. 2001 Chattopadhyay S, Pearce DA. Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1

38. Hamon Center - Sandy Hofmann of a new lysosomal enzyme, palmitoylprotein thioesterase, that is defective ina neuronal degenerative disorder, infantile neuronal ceroid lipofuscinosis. http://www.swmed.edu/cancer/Labs/Hofmann.htm

John D. Minna Lab Members Adi F. Gazdar Lab Members ... Support Personnel Sandra L. Hofmann, M.D., Ph.D Professor of Internal Medicine 6000 Harry Hines Blvd. Dallas TX 75390-8593 Sandra.Hofmann@UTSouthwestern.edu Lab Members Research Interests Work in the laboratory centers on the role of lipid-metabolizing enzymes in cell metabolism and signal transduction. One major emphasis is on the covalent modification of proteins by the fatty acid palmitate and the study of enzymes that transfer the palmitate on and off modified proteins. This work 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. Current work involves the enzymology and molecular genetics of this new enzyme and how a deficiency in the thioesterase leads to neuronal death. Selected Publications Camp, L.A., Verkruyse, L.A., Afendis, S.J., Slaughter, C.S. and Hofmann, S.L.

39. Please Title This Page. (Page 4) J., Santavuori, P., Hofmann, SL, and Peltonen, L. Mutations in the Palmitoyl ProteinThioesterase Gene Causing Infantile neuronal ceroid lipofuscinosis. http://www.swmed.edu/home_pages/endocrine/2001projectpage1.html

Request for Funding Medical Student Research Fellowship for Summer 2001 Mentor: Sandy Hofmann Department: Internal Medicine/Hamon Center for Therapeutic Oncology Research Room number: NB8.104 Mail Code: 8593 Phone number: 8-4911 E-mail: Sandra.Hofmann@UTSouthwestern.edu Project title: Phenotypic and Biochemical Characterization of PPT2 Deficient Mice Human subjects IRB approved project number (where applicable): n. a. Animal subjects IRB approved project number (where applicable): 0433-00-08-1 Project Type (patient-based research, animal-based research, or basic research; this characterization is only to permit a general classification for grouping similar types of projects) Brief Description of Project: PPT2 (palmitoyl-protein thioesterase-2) is a novel lysosomal fatty-acyl thioesterase recently characterized in the lab. In vitro, it hydrolyzes palmitoyl CoA but its substrates in vivo are unknown. Deficiency in PPT1 produces a neurodegenerative phenotype in mice and humans. We have recently produced mice with a targeted deletion in PPT2. The aim of the project will be to characterize any behavioral or neurological deficits in PPT2 deficient mice and to initiate metabolic labeling studies using tissues from these mice to uncover the physiological substrates for PPT2. Previous Research Activities or Publications with Medical Students: 1. Camp, L.A., and Hofmann, S.L. Purification and Properties of a Palmitoyl-Protein Thioesterase that Cleaves Palmitate from H-Ras. J. Biol. Chem. 268: 22566-22574 (1993).

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

Division Home Page David Palmer MSc( Toronto ) PhD ( Massey Principal Research Officer palmerd@lincoln.ac.nz Hilgendorf, Room H441 Extn: 8136 Teaching Supervision of Honours and Graduate students in aspects of Batten disease. Research Animal models for human disease, particularly, Batten disease. Neurons have been cultured from sheep for the first time. Those from affected sheep are being used to study the mechanism of degeneration and test therapies. Apoptosis and excitotoxicity are being examined along with the role of neurotrophic factors. Techniques include histology, immunocytochemistry, molecular biology and protein chemistry. The ovine forms of different genes for different forms of Batten disease are being identified and sequenced. This work involves a number of collaborations with workers in New Zealand, Europe, the USA and Japan. Publications Sleat, D.E., Gin, R.M., Sohar, I., Wisniewski, K., Sklower-Brooks, S., Pullarkat, R.K., Palmer, D.N., Lerner, T.J., Boustany, R-M., Uldall, P., Siakotos, A.N., Donnelly, R.J. and Lobel P. 1999. Mutational analysis of the defective protease in the classical late-infantile neuronal ceroid lipofuscinosis, a degenerative lysosomal storage disorder.

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