Literature DB >> 22327515

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

Cheng Wang1, Yulei Li, Lei Shi, Jie Ren, Monica Patti, Tao Wang, João R M de Oliveira, María-Jesús Sobrido, Beatriz Quintáns, Miguel Baquero, Xiaoniu Cui, Xiang-Yang Zhang, Lianqing Wang, Haibo Xu, Junhan Wang, Jing Yao, Xiaohua Dai, Juan Liu, Lu Zhang, Hongying Ma, Yong Gao, Xixiang Ma, Shenglei Feng, Mugen Liu, Qing K Wang, Ian C Forster, Xue Zhang, Jing-Yu Liu.   

Abstract

Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22327515     DOI： 10.1038/ng.1077

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

Review 1.  Genetic disorders of renal phosphate transport.

Authors:  Dominique Prié; Gérard Friedlander
Journal:  N Engl J Med       Date:  2010-06-24       Impact factor: 91.245

2.  NT5E mutations and arterial calcifications.

Authors:  Cynthia St Hilaire; Shira G Ziegler; Thomas C Markello; Alfredo Brusco; Catherine Groden; Fred Gill; Hannah Carlson-Donohoe; Robert J Lederman; Marcus Y Chen; Dan Yang; Michael P Siegenthaler; Carlo Arduino; Cecilia Mancini; Bernard Freudenthal; Horia C Stanescu; Anselm A Zdebik; R Krishna Chaganti; Robert L Nussbaum; Robert Kleta; William A Gahl; Manfred Boehm
Journal:  N Engl J Med       Date:  2011-02-03       Impact factor: 91.245

Review 3.  Identification and characterization of a widely expressed phosphate transporter/retrovirus receptor family.

Authors:  M P Kavanaugh; D Kabat
Journal:  Kidney Int       Date:  1996-04       Impact factor: 10.612

4.  Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).

Authors:  J R M Oliveira; E Spiteri; M J Sobrido; S Hopfer; J Klepper; T Voit; J Gilbert; Z K Wszolek; D B Calne; A J Stoessl; M Hutton; B V Manyam; F Boller; M Baquero; D H Geschwind
Journal:  Neurology       Date:  2004-12-14       Impact factor: 9.910

5.  Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification.

Authors:  Xiaohua Dai; Yong Gao; Zhenping Xu; Xiaoniu Cui; Juan Liu; Yulei Li; Haibo Xu; Mugen Liu; Qing K Wang; Jing Yu Liu
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2010-10-05       Impact factor: 3.568

Review 6.  Phosphate and cardiovascular disease.

Authors:  Jessica Kendrick; Bryan Kestenbaum; Michel Chonchol
Journal:  Adv Chronic Kidney Dis       Date:  2011-03       Impact factor: 3.620

7.  The Na+-Pi cotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary Pi.

Authors:  Ricardo Villa-Bellosta; Silvia Ravera; Victor Sorribas; Gerti Stange; Moshe Levi; Heini Murer; Jürg Biber; Ian C Forster
Journal:  Am J Physiol Renal Physiol       Date:  2008-12-10

8.  Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements.

Authors:  Silvia Ravera; Leila V Virkki; Heini Murer; Ian C Forster
Journal:  Am J Physiol Cell Physiol       Date:  2007-05-09       Impact factor: 4.249

9.  Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

Authors:  Frank Rutsch; Nico Ruf; Sucheta Vaingankar; Mohammad R Toliat; Anita Suk; Wolfgang Höhne; Galen Schauer; Mandy Lehmann; Tony Roscioli; Dirk Schnabel; Jörg T Epplen; Alex Knisely; Andrea Superti-Furga; James McGill; Marco Filippone; Alan R Sinaiko; Hillary Vallance; Bernd Hinrichs; Wendy Smith; Merry Ferre; Robert Terkeltaub; Peter Nürnberg
Journal:  Nat Genet       Date:  2003-08       Impact factor: 38.330

10.  Regional characterization of energy metabolism in the brain of normal and MPTP-intoxicated mice using new markers of glucose and phosphate transport.

Authors:  Emmanuelle Lagrue; Hiroyuki Abe; Madakasira Lavanya; Jawida Touhami; Sylvie Bodard; Sylvie Chalon; Jean-Luc Battini; Marc Sitbon; Pierre Castelnau
Journal:  J Biomed Sci       Date:  2010-12-04       Impact factor: 8.410
View more
  112 in total

1.  Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.

Authors:  Weiyi Mu; Laura Tochen; Caroline Bertsch; Harvey S Singer; Kristin W Barañano
Journal:  BMJ Case Rep       Date:  2019-05-27

Review 2.  Monckeberg's Medial Sclerosis as a Cause for Headache and Facial Pain.

Authors:  Davis C Thomas; Prisly Thomas; Anilkumar Sivan; Priyanka Unnam; Ahana Ajayakumar; Sanjana Santhosh Kumar; Priyanka Kodaganallur Pitchumani; Mahnaz Fatahzadeh; Nida-E-Haque Mahmud
Journal:  Curr Pain Headache Rep       Date:  2021-06-04

3.  A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion.

Authors:  Kensaku Kasuga; Takuya Konno; Kento Saito; Ayako Ishihara; Masatoyo Nishizawa; Takeshi Ikeuchi
Journal:  J Neurol       Date:  2013-12-10       Impact factor: 4.849

4.  Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Authors:  Eliana Marisa Ramos; Miryam Carecchio; Roberta Lemos; Joana Ferreira; Andrea Legati; Renee Louise Sears; Sandy Chan Hsu; Celeste Panteghini; Luca Magistrelli; Ettore Salsano; Silvia Esposito; Franco Taroni; Anne-Claire Richard; Christine Tranchant; Mathieu Anheim; Xavier Ayrignac; Cyril Goizet; Marie Vidailhet; David Maltete; David Wallon; Thierry Frebourg; Lylyan Pimentel; Daniel H Geschwind; Olivier Vanakker; Douglas Galasko; Brent L Fogel; A Micheil Innes; Alison Ross; William B Dobyns; Diana Alcantara; Mark O'Driscoll; Didier Hannequin; Dominique Campion; João R Oliveira; Barbara Garavaglia; Giovanni Coppola; Gaël Nicolas
Journal:  Eur J Hum Genet       Date:  2018-06-28       Impact factor: 4.246

5.  Bidirectional Translation in Cardiovascular Calcification.

Authors:  Cynthia St Hilaire; Marcel Liberman; Jordan D Miller
Journal:  Arterioscler Thromb Vasc Biol       Date:  2016-03       Impact factor: 8.311

6.  Gain-of-function mutations in SCN11A cause familial episodic pain.

Authors:  Xiang Yang Zhang; Jingmin Wen; Wei Yang; Cheng Wang; Luna Gao; Liang Hong Zheng; Tao Wang; Kaikai Ran; Yulei Li; Xiangyang Li; Ming Xu; Junyu Luo; Shenglei Feng; Xixiang Ma; Hongying Ma; Zuying Chai; Zhuan Zhou; Jing Yao; Xue Zhang; Jing Yu Liu
Journal:  Am J Hum Genet       Date:  2013-10-24       Impact factor: 11.025

7.  Adult-Onset Focal Chorea in Fahr's Disease Resulting From SLC20A2 Mutation: A Novel Phenotype.

Authors:  Miryam Carecchio; Chiara Barzaghi; Claudia Varrasi; Roberto Cantello; Barbara Garavaglia
Journal:  Mov Disord Clin Pract       Date:  2014-12-06

Review 8.  DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.

Authors:  Rodrigo S Lacruz; Stefan Habelitz; J Timothy Wright; Michael L Paine
Journal:  Physiol Rev       Date:  2017-07-01       Impact factor: 37.312

Review 9.  Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.

Authors:  Yvonne Nitschke; Frank Rutsch
Journal:  Curr Osteoporos Rep       Date:  2017-08       Impact factor: 5.096

10.  Expression of osteogenic molecules in the caudate nucleus and gray matter and their potential relevance for Basal Ganglia calcification in hypoparathyroidism.

Authors:  Ravinder Goswami; Tabin Millo; Shruti Mishra; Madhuchhanda Das; Mansi Kapoor; Neeraj Tomar; Soma Saha; Tara Shankar Roy; Vishnubhatla Sreenivas
Journal:  J Clin Endocrinol Metab       Date:  2014-02-19       Impact factor: 5.958
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.