81. RDInfo - Research And Development Information Details Of The Award bisphosphate, 5 phosphatase. Lowe s oculocerebrorenal syndrome is a disorder affecting the brain, eye and kidney. Research funds are http://www.rdinfo.org.uk/Queries/ListGrantDetails.asp?GrantID=4032

82. Get Entry EmAA587050 EmAA100630 EmT88888 EmH27722 EmAA186750 EmR66483 EmT28294 /gene= OCRL1 /product= dJ454M7.1.1 (Lowe oculocerebrorenal syndrome) CDS join http://getentry.ddbj.nig.ac.jp/cgi-bin/get_entry.pl?AL022162

83. Viewbook- Robert Nussbaum Lowe oculocerebrorenal syndrome (OCRL) The laboratory isolated the gene responsible for Lowe syndrome, a rare disorder, by positional cloning and demonstrated http://gpp.nih.gov/researchers/viewbook/Nussbaum_Robert.html

Robert Nussbaum M.D., Harvard Medical School, 1975 National Institutes of Health 49 Convent Drive Building 49 / Room 4A72 Bethesda, Maryland 20892-4472 Phone Number: 301-402-2039 Fax Number: 301-402-2170 Email Address: rlnuss@nhgri.nih.gov Web Site: www.nhgri.nih.gov/Intramural_research/People/nussbaum.html Research Interest(s): Digestive / Kidney Diseases Genetics and Human Genome Research Description: Genetic Approaches to Human Disease Dr. Nussbaum's laboratory works on determining the pathogenesis of various human genetic diseases. Lowe oculocerebrorenal syndrome (OCRL) The laboratory isolated the gene responsible for Lowe syndrome, a rare disorder, by positional cloning and demonstrated that the gene encoded an enzyme, a phosphatidylinositol 4,5 bisphosphate 5-phosphatase, that was deficient in fibroblasts from OCRL patients. The laboratory has shown the enzyme is located primarily in the Golgi complex, particularly the trans-Golgi network. Now we need to understand why a defect in this enzyme leads to the clinical signs seen in the syndrome. The work relies heavily on cell biological and mouse genetics approaches, including transgenic and "knock-out" methods.

84. O In Health > Conditions And Diseases Migraine@ (10); Ocular Motility Disorders@ (8); oculocerebrorenal syndrome@ (4); ODD and CD@ (8); Oligohydramnios@ (10); Olivopontocerebellar http://ilectric.com/glance/Health/Conditions_and_Diseases/O/

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85. NQRHTU Web Site Library Lowe oculocerebrorenal syndrome is an Xlinked disorder caused by mutations in the OCRL1 gene (2/03). Last Reviewed February 2003. http://www.medeserv.com.au/rhtut/sitedb/index.cfm?letter=L

86. National Human Genome Research Institute - Suchy Lab laboratory at the National Human Genome Research Institute. Research centers on understanding oculocerebrorenal syndrome of Lowe, OCRL. http://www.genome.gov/10000362

NHGRI Investigators Intramural Research Branches Online Research Resources from DIR Professional Training and Career Development ... NHGRI Calendar of Events On Other Sites: Lowe Syndrome Association Intramural Research Genetic Disease Branch Suchy Lab Sharon F. Suchy, Ph.D. Associate Investigator Genetic Disease Research Branch B.S. College of William and Mary, 1978 Ph.D. Medical College of Virginia, 1984 suchy@nhgri.nih.gov Building 49, Room 4A66 49 Convent Drive MSC 4472 Bethesda, MD 20892-4472 Selected Publications Lowe Syndrome Mutation Database We study the oculocerebrorenal syndrome of Lowe (OCRL), a rare X-linked disorder that is characterized by congenital cataracts, renal failure and mental retardation. Our laboratory demonstrated that OCRL is caused by the deficiency of the enzyme ocrl1, a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase. This phospholipid molecule is localized to the Golgi apparatus, but exists in small quantities in all tissues, and plays a role in protein trafficking, the polymerization of the actin cytoskeleton, and second messenger signaling (it can form several second messenger molecules, including inositol 1,4,5-trisphosphate, diacylglycerol and phosphatidylinositol 3,4,5 trisphosphate, and is believed to be a second messenger itself). We are working to determine the mechanism by which ocrl1 causes the Lowe syndrome phenotype. Our current efforts center on three questions: why a defect in the ocrl1 enzyme, which has a part in several major cell processes, leads to abnormalities only in specific tissues in Lowe syndrome patients (the lens, kidneys and brain); what role ocrl1 and other PIP2 5-phosphatases play in normal cell metabolism; and whether, or which of, these enzymes functionally overlap in particular tissues. We generated knock-out mice missing the ocrl1 gene and/or a related PIP2 phosphatase, and we are using tissues and cell lines from these mice and patient cell lines to investigate the function and interrelationship of these enzymes. In addition, we established novel enzyme assays that for the first time allow the measurement of different PIP2 phosphatases in particular tissues. We are using these assays to understand the specific role of PIP2 phosphatases.

87. National Human Genome Research Institute - Nussbaum Publications The Lowe oculocerebrorenal syndrome gene encodes a novel protein highly homologous to inositol polyphosphate5-phosphatase. Nature, 358239-242.1992. PubMed. http://www.genome.gov/10000909

NHGRI Investigators Intramural Research Branches Online Research Resources from DIR Professional Training and Career Development ... Nussbaum Lab Nussbaum Publications Robert L. Nussbaum, M.D. Senior Investigator and Chief, Genetic Disease Research Branch Senior Investigator and Chief, Inherited Disease Research Branch Selected Publications Attree, OF, Olivos, IM, Okabe, I, Bailey, LC, Nelson DL, Lewis, RA, McInnes, RR, and Nussbaum, RL. The Lowe Oculocerebrorenal syndrome gene encodes a novel protein highly homologous to inositol polyphosphate-5-phosphatase. Nature PubMed Polymeropoulos MH, Lavedan C , Leroy E, Ide SE, Dehejia A, Dutra A, PikeB, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Mutation in the alpha-Synuclein Gene Identified in Families with Parkinson's Disease. Science PubMed Janne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, and Nussbaum RL. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. Journal of Clinical Investigation PubMed Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL. Mutations Are Not Uniformly Distributed Throughout the OCRL1 Gene in Lowe Syndrome Patients.

88. O Index O Part I. OBESITY. OBSESSIVE COMPULSIVE DISORDERS. OBSTETRICS. oculocerebrorenal syndrome. OLESTRA. OLIGOPHRENIAMICROPHTHALMOS. OLIGOSACCHARIDOSES. OLLIER DISEASE. http://www.childhealthinfo.com/oindex.htm

Where to Start About ABC@F Press Child Care for the '90' - Owner's Manual Links ... Contact Us ChildHealthInformation Center - The Online Database A B C D ... Z Please click on the "box below" to view the following topics. O Part I OBESITY OBSESSIVE COMPULSIVE DISORDERS OBSTETRICS OCULOCEREBRORENAL SYNDROME OLESTRA OLIGOPHRENIA-MICROPHTHALMOS OLIGOSACCHARIDOSES OLLIER DISEASE ONCOLOGY ONLY CHILDREN OPHELIA SYNDROME OPITZ SYNDROME OPITZ-BBBG COMPOUND SYNDROME OPSOCLONUS-MYOCLONUS SYNDROME ORGAN DONATION- TRANSPLANTATION ORGANIC ACIDEMIA ORGANIZATION ORTHODONTICS ORTHOPEDICS OSLER-WEBER-RENDU SYNDROME OSTEOGENESIS IMPERFECTA OSTEOPATHIC MEDICINE OSTEOPETROSIS OSTEOPOROSIS ... Contact Us

89. O Listing Part 1 ObsessiveCompulsive Disorder Foundation, PO Box 70, Milford, CT 06460. oculocerebrorenal syndrome. (See LOWE SNYDROME). OLIGOPHRENIA-MICROPHTHALMOS. http://www.childhealthinfo.com/oindexlist1.htm

O Part I OBESITY (See NUTRITION and EATING DISORDERS) OBSESSIVE COMPULSIVE DISORDERS Obsessive Compulsive Disorder Foundation, P.O. Box 70, Milford, CT 06460 Obsessive Compulsive Anomymous, P.O. Box 215, New Hyde Park, NY 11040 Anxiety Society of America, 6000 Executive Blvd., Rockville, MD 20852 Books: Overcoming Overeating, This book tries to help people break the diet/binge vicious cycle and lose weight naturally. Getting Control, by Lee Baer, (Penguin Books) Helps patient know more about the disorder and how to fight it. Obsessive-Compulsive Disorder Foundation, PO Box 70, Milford, CT 06460 by Constance H. Foster (Dilligaf Publishing) Helps patient know more about the disorder and how to fight it. Obsessive-Compulsive Disorder Foundation, PO Box 70, Milford, CT 06460 OCULOCEREBRORENAL SYNDROME (See LOWE SNYDROME) OLIGOPHRENIA-MICROPHTHALMOS (See NORRIE DISEASE) OLIGOSACCHARIDOSES (See TAY-SACHS DISEASE) OLLIER DISEASE (See also GROWTH DISORDERS) P.O. Box 52616, Shaw AFB, SC 29152-1521 ONCOLOGY (See CANCER) ONLY CHILDREN My One and Only

90. Program Nr 130 The oculocerebrorenal syndrome of Lowe is a rare Xlinked disorder characterized by bilateral congenital cataracts, renal Fanconi syndrome and mental http://genetics.faseb.org/genetics/ashg01/f130.htm

Program Nr: 130 The deficiency of the ocrl1 PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. S.F. Suchy, R.L. Nussbaum. Genetic Diseases Res Branch, NHGRI/NIH, Bethesda, MD. The oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by bilateral congenital cataracts, renal Fanconi syndrome and mental retardation. Lowe syndrome is due to a deficiency of the ocrl1 protein, a phosphatidylinositol 4,5- bisphosphate (PIP2) 5-phosphatase localized to the trans -Golgi network. At present, it is not known how a defective PIP2 5-phosphatase produces the lens, kidney and brain phenotype in Lowe syndrome. The substrate for this phosphatase, PIP2, is an important lipid modulator of cellular processes such cell signaling, protein trafficking and actin polymerization. PIP2 has been consistently demonstrated to be a positive effector of actin polymerization in vitro . We report here the novel finding that Lowe fibroblasts have a reduction in actin stress fibers and respond more rapidly to depolymerizing agents than control cells. These results appear to differ from in vitro data in which elevated PIP2 levels increase actin polymerization. In addition to the reduced actin stress fiber staining, we also show that Lowe cells have an increase in punctate F-actin staining in the center of the cell, that co-localizes with the actin severing and capping protein, gelsolin. This punctate F-actin/gelsolin staining, absent in normal fibroblasts, is concentrated in a central region of the cell and does not coincide with the localization of

91. Biochem. J. (1996) 320, 181-186 - D. Communi And C. Erneux - Identification Of A heptafluorobutyric acid; NEM, Nethylmaleimide; Ni-NTA, nickel nitrilotriacetic acid; OCRL protein, protein deficient in Lowe s oculocerebrorenal syndrome. http://www.biochemj.org/bj/320/0181/bj3200181.htm

About the journal Subscriptions Authors Users ... Download to Citation Matcher Biochem. J. (1996) Identification of an active site cysteine residue in human type I Ins(1,4,5) P 5-phosphatase by chemical modification and site-directed mutagenesis David COMMUNI* and Christophe ERNEUX Institute of Interdisciplinary Research, Free University of Brussels, Campus Erasme, Bldg C, Route de Lennik 808, B-1070 Brussels, Belgium N -ethylmaleimide; Ni-NTA, nickel nitrilotriacetic acid; OCRL protein, protein deficient in Lowe's oculocerebrorenal syndrome. * To whom correspondence should be addressed. Chemical modification using thiol-directed agents and site-directed mutagenesis have been used to investigate the crucial role of an active site cysteine residue within the substrate-binding domain of human type I Ins(1,4,5) P 5-phosphatase. Irreversible inhibition of enzymic activity is provoked by chemical modification of the enzyme by N P . The results indicate that NEM binds at the active site of the enzyme with a stoichiometry of 0.9 mol of NEM per mol of enzyme. A single [ C]NEM-modified peptide was isolated after a -chymotrypsin proteolysis of the radiolabelled enzyme and reverse-phase HPLC. Sequence analysis of the active site-labelled peptide (i.e. MNTRCPAWCD) demonstrated that Cys

92. List Of Rare Diseases Starting With L Kohn Cohen syndrome; Lowe oculocerebrorenal syndrome; Lowe syndrome; Lower limb anomaly ureteral obstruction; Lower limb deficiency http://www.sciencedaily.com/encyclopedia/list_of_rare_diseases_starting_with_l

Match: sort by: relevance date Free Services Subscribe by email RSS newsfeeds PDA-friendly format loc="/images/" A A A Find Jobs In: Healthcare Engineering Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail All Jobs by Job Type All Jobs by Industry Relocating? Visit: Moving Resources Moving Companies Mortgage Information Mortgage Calculator Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Outdoor Living Encyclopedia Main Page See live article List of rare diseases starting with L This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp A B C ... K L M N O P ... Z Table of contents showTocToggle("show","hide") 1 La-Ld 2 Le-Lh 3 Li-Ll 4 Lm-Lp ... 6 Lu-Lz La-Ld Labrador lung Labyrinthitis syndrome Lachanophobia Lachiewicz Sibley syndrome Lacrimo-auriculo-dento-digital syndrome Lactate dehydrogenase deficiency type A Lactate dehydrogenase deficiency type B Lactate dehydrogenase deficiency type C Lactate dehydrogenase deficiency Lactic acidosis congenital infantile Ladda Zonana Ramer syndrome Lafora disease Lagophthalmia cleft lip palate Lambdoid synostosis familial Lambert syndrome Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton paraneoplastic cerebellar degeneration) Lambert-Eaton syndrome Lamellar ichthyosis Lamellar recessive ichthyosis Landau-Kleffner syndrome Landouzy-Dejerine muscular dystrophy Landy Donnai syndrome

93. Neonatology On The Web: Inborn Errors Of Metabolism Galactosemia and Lowe s syndrome (oculocerebrorenal syndrome, an Xlinked recessive disorder with congenital cataracts, proximal RTA, and mental retardation http://www.neonatology.org/syllabus/iem.03.html

Neo Home New Clinical Computers ... Links Inborn Errors of Metabolism: Algorithms for Evaluation william.wilcox@cshs.org Metabolic Acidosis Suspected IEM with Metabolic Acidosis, Diagnostic Flowchart The presence of metabolic acidosis is an important finding and the starting point for one of the two algorithms. If the anion gap is normal and associated with hyperchloremia, this suggests loss of bicarbonate either from the gastrointestinal tract or kidneys. The presence of renal tubular acidosis does not rule out an IEM, however. Galactosemia and Lowe's syndrome (oculocerebrorenal syndrome, an X-linked recessive disorder with congenital cataracts, proximal RTA, and mental retardation) as well as many other metabolic disorders which present later are associated with a RTA, usually a proximal RTA. RTA is often found with disorders of energy metabolism. Elevated anion gap acidosis can be divided into 3 categories depending on the presence of ketones and glucose level. Because the normal ketones (acetoacetic acid and 3-hydroxybutyrate) come from the oxidation of fatty acids, their absence associated with significant hypoglycemia can be suggestive of a fatty acid oxidation disorder. These disorders often present later in life with a Reye syndrome picture or "SIDS". The presence of ketones in the urine (may only be 1+) hypoglycemia suggests an organic aciduria or lactic acidosis. Hyperglycemia and ketonuria defines diabetes mellitus. Metabolic acidosis cannot be further differentiated without the results of the amino and organic acids. If these are normal (except for the changes found with lactic acidosis), then the lactate/pyruvate ratio and the glucose level will allow differentiation into 1) glycogen storage disease, gluconeogenesis disorders, or endocrine causes; 2) disorders of pyruvate metabolism; or 3) defects in mitochondrial energy metabolism.

94. AJNR -- Abstracts: Carroll Et Al. 14 (2): 449 ARTICLES. MR findings in oculocerebrorenal syndrome. WJ Carroll, WW Woodruff and TE Cadman Department of Radiology, Geisinger Medical Center, Danville, PA 17822. http://www.ajnr.org/cgi/content/abstract/14/2/449

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Similar articles found in: AJNR Online PubMed PubMed Citation Search PubMed for articles by: Carroll, W. J. Cadman, T. E. Alert me when: new articles cite this article Download to Citation Manager ARTICLES MR findings in oculocerebrorenal syndrome WJ Carroll, WW Woodruff and TE Cadman Department of Radiology, Geisinger Medical Center, Danville, PA 17822. Oculocerebrorenal syndrome is an X-linked recessive disorder characterized by congenital ocular abnormalities, mental retardation, renal disease, and metabolic bone disease. We report a case of oculocerebrorenal syndrome and, using T1-, proton density-, and T2- weighted imaging sequences, are able to characterize two distinct white matter abnormalities: one lesion is punctate and has signal characteristics that parallel that of cerebrospinal fluid; a second lesion, found in association with the first, consists of patchy white matter abnormalities that are hypointense on T1-weighted images but hyperintense on proton density- and T2-weighted images.

95. EMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article By Melissa Was oculocerebrorenal Dystrophy (Lowe syndrome) In 1952, Lowe and colleagues described an infant with congenital cataracts and mental retardation. When more patients were described, the phenotype http://www.emedicine.com/ped/topic1329.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Oculocerebrorenal Dystrophy (Lowe Syndrome) Last Updated: December 12, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: Lowe's syndrome, oculocerebrorenal syndrome of Lowe, OCRL, renal Fanconi syndrome, congenital cataracts, neonatal or infantile hypotonia, mental retardation, mental impairment, renal tubular dysfunction, Lowe-Terrey-MacLachlan syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Melissa Wasserstein, MD , Assistant Professor, Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine Melissa Wasserstein, MD, is a member of the following medical societies: American Society of Human Genetics Editor(s): Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD

96. Disease Directory : EMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Ar Diseases Genetic Disorders Lowe syndrome eMedicine oculocerebrorenal Dystrophy (Lowe syndrome) Article Directory Listing. http://www.diseasedirectory.net/detailed/25659.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Lowe Syndrome : eMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article ... Directory Listing Title: eMedicine - Oculocerebrorenal Dystrophy (Lowe Syndrome) : Article ... Description: Oculocerebrorenal Dystrophy (Lowe Syndrome) - In 1952, Lowe and colleagues described an infant with congenital cataracts and mental retardation. Date Added: 2/16/2004 7:10:49 PM URL: http://www.emedicine.com/ped/topic1329.htm

97. Penn State Faculty Research Expertise Database (FRED) Brain syndrome, Metabolic, Inborn, CNS Metabolic Disorders, Inborn. Metabolic Brain Diseases, Inherited, Metabolic Brain syndrome, Inborn. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D020739

98. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?309000

99. 92?6? ? June 2003 Volume 15 The summary for this Chinese (Traditional) page contains characters that cannot be correctly displayed in this language/character set. http://www.tzuchi.com.tw/tcmj/92-3/9.htm

¤¤µØ¥Á°ê92¦~6¤ë ²Ä¤Q¤­¨÷ ²Ä¤T´Á June 2003 Volume 15 Number 3 ¤ý¬RÂ× ¿à¹ç¥Í1,3 Á§¬î¨k2 ºK­n öÁä»y¡G°©Àf±½´y¡ALowe¤ó¯g­Ô¸s¡A°©¥NÁ²§±` ¦¬¤å¤é´Á¡G91¦~10¤ë4¤é¡A­×§ï¤é´Á¡G91¦~11¤ë6¤é¡A±µ¨ü¤é´Á¡G91¦~12¤ë10¤é Bone Scintigraphic Findings in the Oculocerebrorenal Syndrome of LoweCase Report Yuh-Feng Wang, Ning-Sheng Lai1,3, Chiou-Nan Shine2 Department of Nuclear Medicine, Internal Medicine1, Pediatrics2, Buddhist Dalin Tzu Chi General Hospital, Chia Yi, Taiwan; Department of Internal Medicine3, Tzu Chi University, Hualien, Taiwan ABSTRACT We report on an 8-year-old boy with oculocerebrorenal syndrome of Lowe (OCRL) involving renal acidosis, hypotonia, congenital cataracts, and growth retardation. Bone scintigraphy was performed to evaluate the patient's skeletal system. The scintigraphic findings were as follows: (1) absence of radioactivity over the epiphyseal growth plates, (2) increased uptake in the skull and extremities, (3) non-visualization of both kidneys, and (4) widening of the bony shafts of the extremities. We suggest that bone scintigraphy can demonstrate both structural and metabolic bony abnormalities in OCRL. (Tzu Chi Med J 2003; 15:195-198) Key words: bone scintigraphy, Oculocerebrorenal syndrome of Lowe, metabolic bony abnormalities

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