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

42. JAX®Mice Database - Mouse/Human Gene Homologs: Infantile Neuronal Ceroid Lipofu JAX®MICE Database Mouse/Human Gene HomologsInfantile neuronal ceroid lipofuscinosis List. http://jaxmice.jax.org/jaxmicedb/html/model_1567.shtml

Mice Orders Services Strain Information Research Models ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: Infantile neuronal ceroid lipofuscinosis" Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply a a-Csf1 op Level 3: Up to 10 mice of each sex can be shipped per order per month. Call to inquire about ordering greater quantities. (1 stocks) New Strains Under Development (See informational text following listing of strains) How to Register Interest Please indicate your interest in purchasing any of the strains listed below when they become available for distribution by checking the box next to the strain(s) of interest and then selecting the "Continue" button which leads to an Interest Form. View a Data Sheet for New Strains Under Development Select the strain name to link to the strain data sheet. Stock Number Strain Name (link to Data Sheet) Reference Under Development for Cryopreservation Repository. Ppt Gupta P. Proc Natl Acad Sci U S A 2001; 98:13566-71. (1 stocks) New Strains Under Development Receive periodic updates on the status of the colony UNDER DEVELOPMENT Obtain advance notification of strain availability and opportunity to order prior to the strain being published as available Provide input affecting speed and quantity of availability The Jackson Laboratory serves as a worldwide distributor and national repository for common and rare strains of inbred mice and mice carrying spontaneous mutations or induced mutations ( i.e.

43. SUP: July 1998 Case Of The Month Diagnosis neuronal ceroid lipofuscinosis, late infantile type. Discussion GoebelHH, 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).

44. Ntsad's What Every Family Should Know: The Allied Diseases Profiled Back to top. 4) Other lysosomal storage disorders. Batten Disease (Juvenileneuronal ceroid lipofuscinosis), Unknown, 204200, Yes, ? 16, AR. http://www.ntsad.org/pages/ntsad.htm

The Allied Diseases Profiled TAY-SACHS AND THE ALLIED DISEASES ARE GENETIC CONDITIONS CLASSIFIED as storage diseases. They are caused by the abnormal accumulation, or storage, of certain waste products in the cells or tissues of affected individuals. As these products build up, cells become damaged and gradually lose their ability to function properly, causing disease symptoms. While the specific clinical courses of these related disorders differ, there are certain commonalities, and children and adults affected with Tay-Sachs or any of the allied diseases share many issues associated with chronic, progressive illness. T he chart below provides a quick reference for the major characteristics of the allied diseases. Underlined words are links to more information on this site or elsewhere on the Internet. The Omim # refers to the catalogue citation on the Online Mendelian Inheritance In Man , the hypertext version of Victor McCusick's landmark catalogue of human genetic disease. A dditionally, the following Allied Diseases are profiled in more depth in their own sections: Tay-Sachs Disease Late-Onset Tay-Sachs Disease Sandhoff Disease Fabry Disease ... Canavan Disease T his information is provided in response to a growing demand for knowledge and in the hopes of increasing awareness and understanding of these rare, but often devastating, diseases.

45. Error Page neuronal ceroid lipofuscinosis encompasses a family of neurodegenerative diseasescharacterized by the accumulation of autofluorescent lipopigments, mainly in http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=216

46. What's Your Diagnosis? Diagnosis neuronal ceroid lipofuscinosis. A timely diagnosis of late infantileand juvenile neuronal ceroid lipofuscinosis is important for family. http://www.kfshrc.edu.sa/annals/196/98-308A.html

Editors: Husn Frayha, MD, and Mansour Al Nozha, FRCP WHAT'S YOUR DIAGNOSIS? Submitted by Oluwole Ogunmekan, MD, FRCP(Lond), DCh; Ali Said Dammas, MD, DCh, Fachartz FIGURE 1. Brain MRI of the patient. FIGURE 2. Electron photomicrograph of a peripheral blood lymphocyte of the patient. History Physical examination showed a severely mentally retarded child, with lack of awareness of his surroundings, drooling of saliva, and occasional myoclonic jerks. He had generalized hyperspasticity and multiple contractures, and could not stand or walk. His plantar responses were equivocal. He had bilaterally optic atrophy. All routine laboratory investigations were normal. Electroencephalogram showed excess slow waves, with interictal record of polyspikes, and spike slow waves bisynchronously. MRI of the brain (figure 1) and an electron microscopic photomicrograph of a peripheral blood lymphocyte of the patient are shown (Figure 2). What abnormalities are seen in Figure 1? What abnormalities are seen in Figure 2? What is the diagnosis? ANSWER TO WHAT'S YOUR DIAGNOSIS? (PREVIOUS PAGE)

47. Literature For Peptidase S53.003 2000; BerryKravis,E., Sleat,DE, Sohar,I., Meyer,P., Donnelly,R. Lobel,P. (2000)Prenatal testing for late infantile neuronal ceroid lipofuscinosis. Ann. http://meropslinks.iapc.bbsrc.ac.uk/MeropsLinks/Lit/S53p003_Lit.htm

Literature for S53.003 Page created 19-Mar-2001 The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH J. Biol. Chem. Prenatal testing for late infantile neuronal ceroid lipofuscinosis Ann. Neurol. Original method for the histochemical demonstration of tripeptidyl aminopeptidase I Cell. Mol. Biol. Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase J. Biochem. (Tokyo) Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis Biochem. Biophys. Res. Commun. Purification and characterization of bovine brain lysosomal pepstatin-insensitive proteinase, the gene product deficient in the human late-infantile neuronal ceroid lipofuscinosis J. Neurochem. The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH Journal of Biological Chemistry Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays Clin. Chem.

48. NPI Listing For Leena Peltonen, M.D., Ph.D. Rapola J, Santavuori P, Hofmann SL and Peltonen L (1995) Mutations in the palmitoylprotein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. http://directory.neuropsychiatricinstitute.org/cgi-bin/showfaculty?4

49. 16 Neuronal Ceroid Lipofuscinosis A Novel Gene (CLN8) Is neuronal ceroid lipofuscinosis A novel gene (CLN8) is mutated in human progressiveepilepsy with mental retardation and the motor neuron degeneration mouse http://www.faseb.org/genetics/ashg99/f16.htm

50. Untitled Document Mutations in the palmitoylprotein thioesterase gene (PPT; CLN1) causing juvenileneuronal ceroid lipofuscinosis with granular osmiophilic deposits (abstract). http://www.ucl.ac.uk/paediatrics/97-98_Publications.htm

Departmental Publications Amess P. N., Penrice J., Howards S., Thoresen M., Edwards A.D., Cady E.B., Wyatt J.S., Sams V. (1998). Organ pathology following mild hypothermia used as neural rescue therapy in newborn piglets. Biology of the Neonate Annals of the New York Academy of Sciences Cribbs L. L., Lee J-H., Yang J., Satin J., Zhange D., Barcley J., Williamson M.P., Fox M., Rees M., Perez-Reyes E. (1998). Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. Circulation Research Edwards A.D., Wyatt J.S., Thoresen M. (1998). Treatment of hypoxic-ischaemic brain damage by moderate hypothermia. Archives of Disease in Childhood Goebel H.H., Sharp J.D. (1998). The Neuronal Ceroid-Lipofuscinoses. Recent Advances. Brain Pathology Greene N.D.E., Bernard D.L., Mole S.E., Gardiner R.M., Nussbaum R.L., Mitchison H.M., Taschner P.E.M., de Vos N., Breuning M.H. (1998). Progress towards development of mouse models for JNCL. (abstract). European Journal of Paediatric Neurology Greene N.D.E., Gerelli D., Van Straaten H.W.M., Copp A.J. (1998). Abnormalities of floor plate, notochord and somite differentation in the loop-tail (Lp) mouse: a model of severe neural tube defects.

51. Center For Advanced Biotechnology And Medicine: Faculty & Research Lysosomal storage disorders, neuronal ceroid lipofuscinosis, NiemannPick disease, proteomics, mannose 6phosphate receptors. Our http://faculty.umdnj.edu/cabm/faculty_lobel.asp

Site Tools Search Contact Site Map Peter Lobel Professor Department of Pharmacology UMDNJ-Robert Wood Johnson Medical School Member Cancer Institute of New Jersey Ph.D., 1986, Columbia University Tel: [732] 235-5032 Fax: [732] 235-5289 lobel@cabm.rutgers.edu Lysosomal storage disorders, neuronal ceroid lipofuscinosis, Niemann Pick disease, proteomics, mannose 6-phosphate receptors. Our laboratory has developed new methods for disease discovery and identified the molecular bases for three fatal neurodegenerative disorders. This work grew out of our basic research on lysosomal enzyme targeting. In addition to their roles in human inherited diseases, alterations in the lysosomal system have been implicated in a variety of disease processes such as tumor invasion and metastasis in cancer, tissue destruction in arthritis, and early changes associated with Alzheimer disease. Once we develop the tools to visualize and characterize the players, our ultimate goal will be to understand the role that lysosomal proteins play in these widespread pathological processes. Identification of a lysosomal protein deficient in a hereditary human neurodegenerative disease. Specimens from an unaffected control and a child diagnosed with late infantile neuronal ceroid lipofuscinosis were fractionated by two dimensional gel electrophoresis, transferred to a membrane, and probed with radiolabeled mannose 6-phosphate receptor. This revealed the absence of a specific protein in the disease specimen and lead to the identification of the molecular basis of the disease.

52. Search By Disease 58 neuronal ceroid lipofuscinosis, adult type (NCL). 59 Neuronalceroid lipofuscinosis, finnish variant, late infantile type (NCL). http://www.eddnal.com/directory/disease.php?letter=N&page=4

53. Peter Lobel In this manner, we found that a fatal childhood neurodegenerative disease calledLINCL (late infantile neuronal ceroid lipofuscinosis) is caused by mutations http://www2.umdnj.edu/~pharm/pharmdep/faculty/plobel/plobel.htm

Pharmacology Faculty Peter Lobel, Ph.D. Professor Department of Pharmacology Robert Wood Johnson Medical School Office: CABM Telephone: (732) 235-5032 FAX: (732) 235-5289 E-mail: lobel@cabm.rutgers.edu Research Description Recent Publications Lab Staff Research Description: up Our laboratory has developed new methods for disease discovery and identified the molecular bases for three fatal neurodegenerative disorders. This work grew out of our basic research on lysosomal enzyme targeting. LINCL is literally a disease from hell, as parents see what has been a normally developing child degenerate before their eyes. Children typically develop normally until age 3 at which point they exhibit ataxia and seizures. They start losing vision a year later, and within a few years are blind, mute, and completely bedridden. The children usually die between ages eight and fifteen, although there are some mutations that result in a later-onset, prolonged disease. At the cellular level there is extensive lysosomal accumulation of autofluorescent storage material (ceroid lipofuscin) accompanied by massive death of neurons and marked brain atrophy. About fifty children are diagnosed with LINCL each year in the United States and the disease has devastating effects on the affected children and families. While our laboratory primarily conducts basic research, our interactions with many LINCL families have given us added impetus to extend our research to the clinic. After we identified the gene and determined the function of corresponding protein, we developed rapid biochemical and DNA-based assays for definitive pre-and postnatal diagnosis and carrier screening. This allows for genetic counseling to prevent further occurrence of the disease. However, in the absence of universal carrier testing, new cases will continue to arise so it is important to develop effective therapies that can halt and reverse disease progression. To this end, we have produced recombinant enzyme in a form that can be taken up by affected cells in culture to correct the primary defect. We are also working to develop a LINCL mouse model that should allow detailed studies of disease pathophysiology and evaluation of potential therapeutics strategies.

54. Patricia B. Munroe Delayed classic and protracted phenotypes of compound heterozygous juvenileneuronal ceroid lipofuscinosis. Neurology 1999;52(2)3605. http://www.mds.qmw.ac.uk/clinpharm/munroe.html

55. Peter Lobel lysosomal storage disorders of unknown etiology and have used these to identify thedisease genes in late infantile neuronal ceroid lipofuscinosis (LINCL) and http://lifesci.rutgers.edu/~molbiosci/Professors/lobel.html

PeterLobel Professor UMDNJ Dept. of Pharmacology CABM Room 204 679 Hoes Lane Piscataway, NJ 08854 FAX - 4850 lobel@cabm.rutgers.edu Hereditary neurodegenerative diseases, functional genomics, lysosomes, protein targeting Our laboratory studies lysosomes and associated human. Lysosomes are organelles found in all eukaryotic cells that contain many different proteases, glycosidases, lipases and other hydrolytic enzymes. The lysosome functions as the cell's recycling compartment, breaking down complex biological macromolecules into simple components. The importance of these organelles is underscored by the existence of over thirty human genetic disorders (e.g., Tay-Sachs disease) where loss of function of a single lysosomal enzyme can lead to severe health problems including neurodegeneration, progressive mental retardation, and early death. 1. Disease discovery. Our laboratory has pioneered novel protein-based approaches to identify the molecular basis for lysosomal storage disorders of unknown etiology and have used these to identify the disease genes in late infantile neuronal ceroid lipofuscinosis (LINCL) and Niemann-Pick Type C2 disease NPC2). We are currently using this and other approaches to determine the causes of other hereditary lysosomal diseases. 2. Medical applications. One tragic aspect of lysosomal neurodegenerative diseases is that they are often misdiagnosed and families can spend years trying to determine the cause of their child's progressive decline. Our laboratory has developed DNA and enzyme based assays for LINCL that allow carrier screening, diagnosis, and prenatal testing. In addition, we are developing knockout mice to produce small animal models for LINCL and NPC2 that will allow detailed studies of disease pathophysiology and evaluation of neuroprotective, enzyme replacement, and gene therapies.

56. Diseases Database Disease, Symptom, Sign, Etc Alphabetical Index : N Diseases Da infantile see Ceroid lipofuscinosis, neuronal 1, infantile neuronal ceroid lipofuscinosisFinnish variant, late infantile see Ceroid lipofuscinosis, neuronal 5 http://www.diseasesdatabase.com/sieve/disease_index_n.asp

Diseases Database [Previous page] [Search] [Index] [Feedback] Diseases Database disease, symptom, sign, etc alphabetical index : N N-acetyl-L-cysteine see Acetylcysteine N-acetylglutamate synthetase deficiency N-trifluoroacetyladriamycin-14-valerate see AD 32 Nabilone Naboth's follicles see Nabothian gland cyst Nabothian gland cyst Nabumetone NADH-dependent methemoglobin reductase deficiency NADH-diaphorase deficiency see NADH-dependent methemoglobin reductase deficiency Nadifloxacin Nadolol NADPH-dependent methemoglobin reductase deficiency NADPH-reductase deficiency see NADPH-dependent methemoglobin reductase deficiency Nadroparine see Low molecular weight heparin Naegeli-Franceschetti-Jadassohn syndrome Naegleria Naegleria fowleri see Naegleria Naegleria fowlerii see Naegleria Naegleriasis see Naegleria Nafarelin see Gonadotrophin releasing hormone Nafcillin Nafidimide see Amonafide Naftidrofuryl Naftifine Nail abnormality Nail biting see Onychophagia Nail discoloration Nail disorders see Nail abnormality Nail fungal infection see Tinea unguium Nail overgrowth see Onychauxis Nail pitting Nail ridging see Ridged nails Nail signs see Nail abnormality Nail-patella syndrome see Hereditary onycho-osteodysplasia Nalbuphine Nalidixic acid Nalmefene ... Nance-Horan syndrome Nance-Insley syndrome see Otospondylomegaepiphyseal dysplasia Nance-Sweeney chondrodysplasia see Otospondylomegaepiphyseal dysplasia Nandrolone Nanocephalic dwarf see Seckel's syndrome Nanophyetiasis Nanophyetus see Nanophyetiasis Naphazoline Naphthalene Nappy rash ... Nappy rash, primary

57. Diseases Database Disease, Symptom, Sign, Etc Alphabetical Index : J Diseases Da colonic polyposis Juvenile nephronophthisis with Leber amaurosis see Loken Seniorsyndrome Juvenile neuronal ceroid lipofuscinosis see Ceroid lipofuscinosis http://www.diseasesdatabase.com/sieve/disease_index_j.asp

Diseases Database [Previous page] [Search] [Index] [Feedback] Diseases Database disease, symptom, sign, etc alphabetical index : J J waves Jabs syndrome see Blau syndrome Jaccoud's arthropathy Jackson-Lawler congenital pachyonychia Jackson-Weiss syndrome ... Jacobsen syndrome Jadassohn nevus phakomatosis see Epidermal naevus syndrome Jadassohn-Dösseker disease see Pretibial myxoedema Jadassohn-Lewandowsky syndrome Jaeken syndrome see Carbohydrate deficient glycoprotein syndrome type 1a Jaffe-Campanacci syndrome Jaffe-Lichtenstein syndrome Jakob-Creutzfeldt Disease Jansky-Bielschowsky disease see Ceroid lipofuscinosis neuronal 2 late infantile Janz juvenile myoclonic epilepsy Japanese encephalitis Japanese river fever see Scrub typhus Jarcho-Levin syndrome Jaundice Jaundice of prematurity Jaw muscle spasm see Trismus Jaw protrusion see Prognathia Jaw small see Micrognathia Jaw-winking syndrome JC virus Jellyfish sting ... Jensen syndrome Jerky pulse see Rapid up-stroke pulse Jervell and Lange Nielsen syndrome see Lange Nielsen syndrome Jet lag Jeune's thoracic dystrophy syndrome Jiggers see Tungiasis Job's syndrome see Hyperimmunoglobulin E (IgE) syndrome Jock itch see Tinea cruris Jod-Basedow thyrotoxicosis Johanson-Blizzard syndrome Joint contracture see Contractures Joint effusion see Arthropathy Joint hyperextensibility see Joint hypermobility Joint hypermobility Joint infection (direct) see Septic arthropathy Joint laxity see Joint hypermobility Joint pain or swelling or disorder see Arthropathy Joubert syndrome Joubert-Boltshauser syndrome see Joubert syndrome Jugular paraganglioma

58. MGH Neurogenetics DNA Diagnostic Laboratory Hyperkalemic Periodic Paralysis (HYPP); Infantile neuronal ceroid lipofuscinosis(INCL, CLN1); Late Infantile neuronal ceroid lipofuscinosis http://neuro-oas.mgh.harvard.edu/neurogenetics/

MGH Neurogenetics DNA Diagnostic Laboratory We are a clinical service laboratory offering molecular DNA diagnostic testing for neurogenetic disorders. Some of our test protocols have been developed directly from the Massachusetts General Hospital (MGH) research laboratories actively working in these areas. We maintain a close working affiliation with these laboratories so that our technology and interpretation is the most up-to-date. Current test offerings: Dystonia (DYT1) Familial Amyotrophic Lateral Sclerosis (FALS; SOD1 mutation) Hypokalemic Periodic Paralysis (HOPP) Hyperkalemic Periodic Paralysis (HYPP) Infantile Neuronal Ceroid Lipofuscinosis (INCL, CLN1) Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL, CLN2) Juvenile Neuronal Ceroid Lipofuscinosis (JNCL, CLN3, Batten disease] Neurofibromatosis type 2 (NF2) [mutation screening; linkage] Norrie disease (ND) Tuberous Sclerosis (TSC1 and TSC2) Huntington disease (HD) Friederichs Ataxia (FA) Spinocerebellar ataxias: SCA1, SCA2, SCA6, SCA7 Machado-Joseph disease (MJD; SCA3) Dentatorubral-pallidoluysian atrophy (DRPLA) Paternity chromosome 1p allele loss We work with professionals to assist patients in obtaining accurate and useful DNA mutational analysis. Consultation by telephone or email is provided to referring physicians and genetic counselors as well as to patients and their families. Genetic counseling can be provided in our affiliated MGH Developmental Neurogenetics Clinic.

59. Biochem. J. (2001) 357, 49-55 - L. Lin And P. Lobel - Recombinant Human CLN2 Pro Production and characterization of recombinant human CLN2 protein for enzymereplacementtherapy in late infantile neuronal ceroid lipofuscinosis. http://www.biochemj.org/bj/357/bj3570049.htm

Whole site Author Keywords Title Medline/PubMed Citation Related Articles in PubMed Download to Citation Matcher Biochem. J. (2001) (Printed in Great Britain) Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis Key words: endocytosis, lysosomal storage, overexpression, tripeptidyl peptidase I. Abbreviations used: LINCL, late infantile neuronal ceroid lipofuscinosis; TPP-I, tripeptidyl peptidase I; CLN2p, CLN2 ( c eroid l ipofuscinosis, n euronal 2) protein; LAMP, lysosome-associated membrane protein; 4-MU, 4-methylumbelliferyl; MTX, methotrexate; Man-6- P , mannose 6-phosphate; MPR, Man-6- P receptor; subunit c, mitochondrial ATP synthase subunit c; CHO, Chinese-hamster ovary; DME, Dulbecco's modified Eagle's; FBS, fetal-bovine serum. Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal recessive childhood disease caused by mutations in the gene, which encodes the lysosomal enzyme tripeptidyl peptidase I. As a step towards understanding the protein and developing therapeutics for the disease, we have produced and characterized recombinant human CLN2 ( eroid ipofuscinosis

60. Biochem. J. (2003) 369, 55-62 - S. Partanen And Others - Intracellular Transport 1, D35033 Marburg, Germany. Key words fluorimetric substrate, lysosomalstorage, neuronal ceroid lipofuscinosis, overexpression. http://www.biochemj.org/bj/369/bj3690055.htm

Whole site Author Keywords Title Medline/PubMed Citation Related Articles in PubMed Download to Citation Matcher Biochem. J. (2003) (Printed in Great Britain) A replacement of the active-site aspartic acid residue 293 in mouse cathepsin D affects its intracellular stability, processing and transport in HEK-293 cells Key words: fluorimetric substrate, lysosomal storage, neuronal ceroid lipofuscinosis, overexpression. Abbreviations used: AMCA-Hb, 6-[(7-amino-4-methylcoumarin-3-acetyl)amino]hexoid acid coupled to haemoglobin; CHO, Chinese hamster ovary; CONCL, congenital ovine NCL; CTSD, cathepsin D; DMEM, Dulbecco's modified Eagle's medium; hCTSD, human CTSD; mCTSD, mouse CTSD; M6P, mannose 6-phosphate; NCL, neuronal ceroid lipofuscinosis; PDI, protein disulphide isomerase. Received 5 August 2002/17 September 2002; accepted 26 September 2002 Published as BJ Immediate Publication 26 September 2002, DOI 10.1042/BJ20021226 Immediate Publications Current issue Browse archive Search archive ... PDF file

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