41. Arch Neurol -- Abstract: Autonomic Dysfunction In Machado-Joseph Disease, April Arch Neurol. 2005;62630636. Objective machado-joseph disease is an autosomal dominant spinocerebellar ataxia with expanded trinucleotide repeats. http://archneur.ama-assn.org/cgi/content/abstract/62/4/630

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 62 No. 4, April 2005 Featured Link E-mail Alerts Original Contribution Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Yeh TH Chen RS Contact me when this article is cited Topic Collections Genetic Disorders Motor Neuron Disease Topic Collection Alerts Autonomic Dysfunction in Machado-Joseph Disease Tu-Hsueh Yeh, MD Chin-Song Lu, MD Yah-Huei Wu Chou, PhD Chok-Chean Chong, MD Tony Wu, MD, PhD Nai-Hui Han, MD Rou-Shayn Chen, MD Arch Neurol. Machado-Joseph disease is an autosomal dominant spinocerebellar ataxia with expanded trinucleotide repeats. Although autonomic nervous system degeneration was documented in postmortem reports, the autonomic dysfunction in patients

42. Arch Neurol -- Abstract: Was The Ataxia Of Pierre Marie Machado-Joseph Disease?: Was the Ataxia of Pierre Marie machadojoseph disease? A Reappraisal Based on the Last Autopsy Case From la Salpêtrière Hospital http://archneur.ama-assn.org/cgi/content/abstract/61/5/784

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 61 No. 5, May 2004 Featured Link E-mail Alerts History of Neurology Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Uchihara T Hauw JJ Contact me when this article is cited Topic Collections Genetic Disorders History of Medicine Ataxia Topic Collection Alerts Was the Ataxia of Pierre Marie Machado-Joseph Disease? Toshiki Uchihara, MD, PhD Charles Duyckaerts, MD, PhD Kiyoshi Iwabuchi, MD, PhD Makoto Iwata, MD, PhD Saburo Yagishita, MD, PhD Jean-Jacques Hauw, MD, PhD Arch Neurol. Nosological placement of e de Pierre Marie (HAC) has never been established even after several autopsy cases from the original Haudebourg family had been reported. To reappraise the clinical and pathological features

43. UniProtKB/Swiss-Prot Entry P54252 [MJD1_HUMAN] Machado-Joseph Disease Protein 1 CAG expansions in a novel gene for machadojoseph disease at chromosome 14q32.1. ; machado-joseph disease gene products carrying different carboxyl http://www.expasy.org/uniprot/P54252

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers Entered in Swiss-Prot in Release 34, October 1996 Sequence was last modified in Release 41, February 2003 Annotations were last modified in Release 47, May 2005 Name and origin of the protein Protein name Machado-Joseph disease protein 1 Synonyms Ataxin-3 Spinocerebellar ataxia type 3 protein Gene name Name: Synonyms: ATX3, MJD, MJD1, SCA3 From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE (ISOFORM 1), AND VARIANT MJD1A. TISSUE Brain PubMed=7874163 [ NCBI ExPASy EBI Israel ... Kawaguchi Y.

44. UniProtKB/Swiss-Prot Entry O17850 [MJDL_CAEEL] Machado-Joseph Disease-like Prote Protein name, machadojoseph disease-like protein. Synonyms, None. Gene name. ORFNames, F28F8.6. From Caenorhabditis elegans, TaxID 6239 http://www.expasy.org/uniprot/O17850

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers None Entered in Swiss-Prot in Release 42, October 2003 Sequence was last modified in Release 42, October 2003 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Machado-Joseph disease-like protein Synonyms None Gene name ORFNames: From Caenorhabditis elegans TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. STRAIN =Bristol N2; PubMed=9851916 [ NCBI ExPASy EBI Israel ... Japan The C. elegans sequencing consortium; "Genome sequence of the nematode C. elegans: a platform for investigating biology.";

45. Home Page machadojoseph disease (SCA3) is a hereditary neurodegenerative condition caused by glutamine-repeat expansion. MJD is somewhat similar to Huntington s http://www.ataxiamjd.org/

Home Help Hope People ... Donate Now They Found the Gene. Let's Find the Cure. Welcome to our site. Ataxia MJD Research Project, Inc. is a nonprofit corporation whose mission is to fund medical research that will help scientists find a cure for Machado-Joseph Disease (MJD) and similar disorders. New Grant Offering Ataxia MJD Research Project, Inc. is now accepting proposals for a $50,000 grant for research aimed at understanding the pathogenesis and development of a treatment or cure for Machado-Joseph Disease (SCA3, MJD). Areas of interest include animal models, gene therapy, cell survival and death and studies of molecular pathogenesis. Grant applications will be reviewed by a panel of scientists. Email Laura Denning at LDenning@ataxiamjd.ord for an application. Deadline is 10/9/05. About Machado-Joseph Disease Machado-Joseph Disease (SCA3) is a hereditary neurodegenerative condition caused by glutamine-repeat expansion. MJD is somewhat similar to Huntington's Disease, Parkinson's Disease and ALS (Lou Gehrig's Disease). It usually strikes in mid-life but also affects children and older adults causing ataxia (loss of balance and clumsiness), slurred speech, difficulty swallowing, loss of eye movement, sensations and muscle mass. Currently there's no treatment or cure and it is eventually fatal. If one parent has the disease, each child has a 50% chance of inheriting it. MJD often affects individuals of Portuguese descent but it is a world-wide problem. Families with MJD are found in Portugal, the Azore Islands, the United States, Japan, Germany, Africa, England, Scandinavia, France, China, Israel and in other parts of the world.

46. Joseph S Disease,Autosomal Dominant Spinocerebellar Degeneration Azorean Neurologic Disease Machado Disease machadojoseph disease MJD Nigrospinodentatal Degeneration Striatonigral Degeneration, Autosomal Dominant Type http://www.icomm.ca/geneinfo/josephs.htm

47. Rare Diseases: Regarding Machado-joseph Disease The carracter you choose is to young to be affected in his mobility and speech. because the machadojoseph dissease usually breaks out at a later age (mid http://experts.about.com/q/2973/2957828.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About AllExperts Experts Search Experts: Rare Diseases Volunteer Answers to one of thousands of questions Home More Questions Question Library zmhp('style="color:#fff"') Subjects More Topic Questions Question Library A B ... Link to Us Free Online Courses 12 Weeks to Weight Loss Take Charge of Stress Learn How to Bake Budgeting 101 ... MORE E-COURSES You are here: Experts Health/Fitness Rare/Orphan Diseases Rare Diseases Topic: Rare Diseases Expert: albert de vries Date: Subject: regarding machado-joseph disease Question I am a writer who is looking for information. A character in a story I am writing is afflicted with a condition that impairs his speech, thought, and mobility. Do you think this would be a likely cause? Would it be likely in a man in his twenties? Could you give me more information? Thank you, Holly Dyess Answer The carracter you choose is to young to be affected in his mobility and speech. because the machado-joseph dissease usually breaks out at a later age (mid thirty untill 70 or even later) His thoughts are normally not affected.

48. Frequency Of Spinocerebellar Ataxia Type 1, Dentatorubropallidoluysian Atrophy, Improvement in the Molecular Diagnosis of machadojoseph disease machado-joseph disease presenting as severe asymmetric proximal neuropathy J. Neurol. http://www.neurology.org/cgi/content/abstract/46/1/214

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Silveira, I. Articles by Rouleau, G. A. ARTICLES Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients I Silveira, I Lopes-Cendes, S Kish, P Maciel, C Gaspar, P Coutinho, MI Botez, H Teive, W Arruda, CE Steiner, W Pinto-Junior, JA Maciel, S Jerin, G Sack, E Andermann, L Sudarsky, R Rosenberg, P MacLeod, D Chitayat, R Babul, J Sequeiros and GA Rouleau Centre for Research in Neurosciences, McGill University, Montreal, Quebec, Canada. The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders varying in both clinical manifestations and mode of inheritance. Six different genes causing autosomal dominant SCA are

49. Machado-Joseph Disease: Cerebellar Ataxia And Autonomic Dysfunction In A Patient We describe an unusual case of a patient with machadojoseph disease (MJD) who showed Improvement in the Molecular Diagnosis of machado-joseph disease http://www.neurology.org/cgi/content/abstract/49/2/604

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Takiyama, Y. Articles by Nishizawa, M. ARTICLES Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene Y Takiyama, K Sakoe, I Nakano and M Nishizawa Department of Neurology, Jichi Medical School, Tochigi, Japan. We describe an unusual case of a patient with Machado-Joseph disease (MJD) who showed autonomic dysfunctions in addition to cerebellar ataxia. The number of CAG repeat units in the expanded allele of the MJD1 gene of the patient is smaller (56 CAG repeat units) than all previously reported numbers of CAG repeat units in expanded alleles. Thus, the findings in this

50. Saturday Evening Post: Inherited Nerve Cell Disorder - Medical Mailbox - Machado machadojoseph disease (MJD) is an inherited genetic disorder that cripples and paralyzes sufferers while leaving their intellect intact. http://www.findarticles.com/p/articles/mi_m1189/is_2_274/ai_83040114

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Saturday Evening Post March-April 2002 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Related Searches Genetic disorders / Analysis Cerebellar ataxia / Analysis Featured Titles for Advocate, The Air Force Journal of Logistics Air Force Law Review Air Force Speeches ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Inherited nerve cell disorder - Medical Mailbox - Machado-Joseph Disease - Brief Article Saturday Evening Post March-April, 2002 by Cory SerVaas Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Dear Dr. SerVaas: I really enjoy The Saturday Evening Post, and "Medical Mailbox" is my favorite part of it. Our grandson's wife has been diagnosed as having Joseph's disease. At 37 years of age, she manages to get around in her home with a walker, but has to use a wheelchair otherwise. She has fallen many times. I know it is an inherited disease (her mother died of it, as have others in the family). What is it, and is there any research being done on it? Also, Mary has three children. How great is the chance they will have the disease? Is there any test that can predict whether they have it?

51. Spinocerebellar Ataxia Type 3 (Machado-Joseph Disease): Severe Destruction Of Th Regional and cellular expression of the machadojoseph disease gene in brains of Machado Joseph disease maps to the same region of chromosome 14 as the http://brain.oxfordjournals.org/cgi/content/full/125/9/2115

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: ISI Web of Science (7) Request Permissions PubMed PubMed Citation Articles by Braak, H. Brain, Vol. 125, No. 9, 2115-2124, September 2002 Guarantors of Brain R. A. I. de Vos C. Schultz E. R. Brunt H. Paulson and H. Braak Department of Clinical Neuroanatomy, Johann Wolfgang Goethe University, Frankfurt/Main, Germany, Laboratorium Pathologie Oost Nederland, Enschede, Department of Neurology, University Hospital, Groningen, The Netherlands, Department of Neurology, University of Iowa College of Medicine, Iowa City, IA, USA Received December 19, 2001. Revised March 12, 2002. Second revision March 28, 2002. Accepted March 29, 2002. Summary Top Summary Introduction Material and methods Results Discussion References The lateral reticular nucleus (LRT) of the medulla oblongata is a precerebellar nucleus involved in proprioception and somatomotor automatisms. We investigated this nucleus in five individuals

52. Detection Of The Machado-Joseph Disease/spinocerebellar Ataxia Three Trinucleoti Detection of the machadojoseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, http://brain.oxfordjournals.org/cgi/content/abstract/118/5/1077

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: ISI Web of Science (29) Request Permissions PubMed PubMed Citation Articles by Giunti, P. Articles by Harding, A. E. ARTICLES Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth P Giunti, MG Sweeney and AE Harding University Department of Clinical Neurology, Institute of Neurology, London, UK. Affected members of 63 families with a variety of autosomal dominant late onset cerebellar ataxias (ADCA), and 29 patients with similar phenotypes but no affected relatives, were investigated for the trinucleotide (CAG)

53. Journal Of The American College Of Nutrition -- Sign In Page Machado Joseph disease (MJD) is a progressive spinocerebellar ataxic disorder Toxic Common Denominators of machadojoseph disease Cluster Ecosystems http://www.jacn.org/cgi/content/full/23/6/715S

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Journal of the American College of Nutrition Online. Full Text The Pathogenesis of Machado Joseph Disease: A High Manganese/Low Magnesium Initiated... Purdey J Am Coll Nutr. This Article Abstract Figures Only Full Text (PDF) Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Purdey, M. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$7.00 Pay for Admission - You may access all content in Journal of the American College of Nutrition Online (from the computer you are currently using) for 14 days for US$20.00.

54. Health In The XXI Century: A Vision Of The European Youth Molecular genetics studies of the gene of machadojoseph disease and its The spreading of machado-joseph disease throughout the world as well as its http://www.cienciaviva.pt/healthXXI/pedrov_dmj/index.asp?lang=en

55. Machado-Joseph Disease Synonyms, Eastern Carolina machadojoseph disease Synonyms - University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/113410.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Machado-Joseph Disease Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Machado-Joseph Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Autosomal Dominant Spinocerebellar Degeneration Azorean Neurologic Disease Machado Disease Joseph Disease MJD Nigrospinodentatal Degeneration Striatonigral Degeneration, Autosomal Dominant Type Spinocerebellar Ataxia Type III (SCA 3) Disorder Subdivisions Machado-Joseph Disease Type I (MJD-I) Machado-Joseph Disease Type II (MJD-II) Machado-Joseph Disease Type III (MJD-III) General Discussion Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain called the hindbrain. Patients with MJD may eventually become crippled and/or paralyzed but their intellect remains intact. The onset of symptoms of MJD varies from early teens to late adulthood. Three forms of Machado-Joseph Disease are recognized: Types MJD-I, MJD-II, and MJD-III. The differences in the types of MJD relate to the age of onset and severity. Earlier onset usually produces more severe symptoms.

56. Human Protein: P54252 - Machado-Joseph Disease Protein 1 (Ataxin-3) (Spinocerebe CAG expansions in a novel gene for machadojoseph disease at chromosome machado-joseph disease gene products carrying different carboxyl termini. http://harvester.embl.de/harvester/P542/P54252.htm

Human protein: P54252 - Machado-Joseph disease protein 1 (Ataxin-3) (Spinocerebellar ataxia type 3 protein). EMBL FORUM Length: 376 aa , molecular weight: 43450 Da , CRC64 checksum: MESIFHEKQE GSLCAQHCLN NLLQGEYFSP VELSSIAHQL DEEERMRMAE GGVTSEDYRT 60 FLQQPSGNMD DSGFFSIQVI SNALKVWGLE LILFNSPEYQ RLRIDPINER SFICNYKEHW 120 FTVRKLGKQW FNLNSLLTGP ELISDTYLAL FLAQLQQEGY SIFVVKGDLP DCEADQLLQM 180 IRVQQMHRPK LIGEELAQLK EQRVHKTDLE RMLEANDGSG MLDEDEEDLQ RALALSRQEI 240 DMEDEEADLR RAIQLSMQGS SRNISQDMTQ TSGTNLTSEE LRKRREAYFE KQQQKQQQQQ 300 QQQQQQQQQQ QQQQQQQRDL SGQSSHPCER PATSSGALGS DLGKACSPFI MFATFTLYLT 360 YELHVIFALH YSSFPL 376 // SOURCE BLAST OMIM SMART ... GoTo: SOURCE @ Stanford University Ataxin 3 UniGene LocusLink OMIM GenAtlas ... Genome Browser Chromosomal Location Chromosome/Cytoband Microarray Gene Expression Data Data available Show Gene Expression Data LocusLink Information Locus Link Summary Machado-Joseph disease is an autosomal dominant neurologic disorder, and is now known to be the same as previously described spinocerebellar ataxia-3. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Transcript variants encoding different isoforms (not involving the (CAG)n repeats) and utilizing alternative polyA_sites have been described for this gene.

57. ATXN3 - Machado-Joseph Disease Protein 1 In order to examine whether SCA1 and machadojoseph disease (MJD) loci are different The following synonyms exist for gene ATXN3 (machado-joseph disease http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/90116.html

Disease-associated huntingtin (Q148) and ataxin-3 co-localize with aggregates. Abstract-10383707 The N-terminal domain of ataxin-3 inhibits histone acetylation by in vitro and inhibits transcription in vivo. Abstract-9252246 MJD and chromosome 6p- linked spinocerebellar ataxia ( ) are difficult to differentiate clinically, and it has been suggested that they may be allelic variants of the same disorder. Abstract-7547392 We provide evidence that MJD in five pedigrees of Azorean descent is also linked to chromosome 14q in an 18-cM region between the markers D14S67 and AACT (multipoint lod score +7.00 near D14S81). Abstract-8064940 However, in 293 cells is recruited to intranuclear inclusions formed by the mutant ataxin-3 through its interaction with ataxin-3 Abstract-8660729 We found that ataxin-3 interacts with two human homologs of the yeast DNA repair protein and Abstract-8660729 Here, we show that ataxin 1 and ataxin 3 proteins are recruited into aggregates in NIID in the absence of a CAG expansion in the and genes.

58. Mjd - Machado-Joseph Disease Protein 1 The following synonyms exist for gene Mjd (machadojoseph disease protein 1) ATX3, machado-joseph disease ( MJD; MIM 109150) is a late-onset http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/147997.html

Mouse ataxin-3 is ubiquitously expressed during embryonic development and in the adult, with strong expression in regions of the CNS affected in MJD Abstract-10493561 Overexpression of parkin reduces aggregation and cytotoxicity of an expanded polyglutamine ataxin-3 fragment. Abstract-9740874 In SCA-3 , abnormal ataxin-3 is aggregated in neuronal nuclei, and in SCA-6, a mutated alpha1A-calcium channel protein is the likely cause of abnormal calcium channel function in Purkinje cells and in the death of these neurons. Abstract-1455231 Broad-spectrum caspase inhibitors block ataxin-3 proteolysis and studies suggest that caspase-1 is a primary mediator of cleavage. Abstract-10244075 Finally, caspase-mediated cleavage of expanded ataxin-3 resulted in increased ataxin-3 aggregation, suggesting a potential role for caspase-mediated proteolysis in spinocerebellar ataxia type-3 pathogenesis. Abstract-10244075 Using cellular models we now show that the endogenous spinocerebellar ataxia type-3 disease protein, ataxin-3 , is proteolyzed in apoptotic paradigms, resulting in the loss of full-length ataxin-3 and the corresponding appearance of an approximately 28-kDa fragment containing the glutamine repeat.

59. CAG Expansions In A Novel Gene For Machado-Joseph Disease At Chromosome 14q32.1 The gene for machadojoseph disease maps to human chromosome 14q. machado-joseph disease in pedigrees of Azorean descent is linked to chromosome 14. http://www.nature.com/doifinder/10.1038/ng1194-221

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng1194-221 CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 Yoshiya Kawaguchi , Toshihiro Okamoto , Masafumi Taniwaki , Megumi Aizawa , Miho Inoue , Sadao Katayama , Hideshi Kawakami , Shigenobu Nakamura , Masaki Nishimura , Ichiro Akiguchi , Jun Kimura , Shuh Narumiya Department of Pharmacology, Kyoto University Faculty of Medicine, Kyoto 606-01, Japan The 3rd Department of Internal Medicine, Kyoto Prefectural University of Medicine, Kyoto 602, Japan The 3rd Department of Internal Medicine, Hiroshima University School of Medicine, Hiroshima 734, Japan Department of Neurology, Kyoto University Faculty of Medicine, Kyoto 606-01, Japan Correspondence should be addressed to A.K. REFERENCES Isselbacher, K.J.

60. SPINOCEREBELLAR ATAXIA TYPE 3 | MACHADO-JOSEPH DISEASE This site provides easyto-understand information about the debilitating, neuro-genetic disease SCA3 aka MJD http://sunnyp.com/sca3/

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