125
Views
6
CrossRef citations to date
0
Altmetric
Original Research

Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

, , , , , , , & show all
Pages 725-731 | Published online: 16 Jun 2017

References

  • GustavsonKHHagbergBThe incidence and genetics of metachromatic leucodystrophy in northern SwedenActa Paediatr Scand19716055855905110535
  • GieselmannVFrankenSKleinDMetachromatic leukodystrophy: consequences of sulphatide accumulationActa Paediatr Suppl2003924437479 discussion 4514989469
  • van RappardDFBoelensJJWolfNIMetachromatic leukodystrophy: disease spectrum and approaches for treatmentBest Pract Res Clin Endocrinol Metab201529226127325987178
  • GieselmannVKrägeloh-MannIMetachromatic leukodystrophy – an updateNeuropediatrics20104111620571983
  • CostelloDJEichlerAFEichlerFSLeukodystrophies: classification, diagnosis, and treatmentNeurologist200915631932819901710
  • BatziosSPZafeiriouDIDeveloping treatment options for metachromatic leukodystrophyMol Genet Metab20121051566322078456
  • SoldersMMartinDAAnderssonCHematopoietic SCT: a useful treatment for late metachromatic leukodystrophyBone Marrow Transplant20144981046105124797185
  • van EgmondMEPouwelsPJBoelensJJImprovement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophyJAMA Neurol201370677978223608771
  • WangRYBodamerOAWatsonMSWilcoxWRACMG Work Group on Diagnostic Confirmation of Lysosomal Storage DiseasesLysosomal storage diseases: diagnostic confirmation and management of presymptomatic individualsGenet Med201113545748421502868
  • BiffiANaldiniLNovel candidate disease for gene therapy: metachromatic leukodystrophyExpert Opin Biol Ther2007781193120517696818
  • SevinCAubourgPCartierNEnzyme, cell and gene-based therapies for metachromatic leukodystrophyJ Inherit Metab Dis200730217518317347913
  • CheonJEKimIOHwangYSLeukodystrophy in children: a pictorial review of MR imaging featuresRadiographics200222346147612006681
  • Van der KnaapMSPouwelsPJWMagnetic resonance spectroscopy: basic principles and application in white matter disordersvan der KnaapMSValkJMagnetic resonance of myelination and myelin disordersBerlinSpringer2005859880
  • FaerberENMelvinJSmergelEMMRI appearances of metachromatic leukodystrophyPediatr Radiol199929966967210460327
  • KimTSKimIOKimWSMR of childhood metachromatic leukodystrophyAJNR Am J Neuroradiol19971847337389127040
  • EichlerFGroddWGrantEMetachromatic leukodystrophy: a scoring system for brain MR imaging observationsAJNR Am J Neuroradiol200930101893189719797797
  • MolzerBSundt-HellerRKainz-KorschinskyMZobelMElevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activityAm J Med Genet19924445235261359786
  • WangJZhangWPanHARSA gene mutations in five Chinese metachromatic leukodystrophy patientsPediatr Neurol200736639740117560502
  • KumarPHenikoffSNgPCPredicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmNat Protoc2009471073108119561590
  • AdzhubeiIASchmidtSPeshkinLA method and server for predicting damaging missense mutationsNat Methods20107424824920354512
  • GortLCollMJChabásAIdentification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patientsHum Mutat199914324024810477432
  • GieselmannVZlotogoraJHarrisAWengerDAMorrisCPMolecular genetics of metachromatic leukodystrophyHum Mutat1994442332427866401
  • HasegawaYKawameHEtoYMutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophyDNA Cell Biol19931264934988101083
  • HarveyJSNelsonPVCareyWFRobertsonEFMorrisCPAn arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophyHum Mutat1993242612678104633
  • KreysingJvon FiguraKGieselmannVStructure of the arylsulfatase A geneEur J Biochem199019136276311975241
  • GieselmannVPoltenAKreysingJvon FiguraKArylsulfatase A pseudodeficiency: loss of a polyadenylation signal and N-glycosylation siteProc Natl Acad Sci U S A19898623943694402574462
  • EngBNakamuraLNO’ReillyNIdentification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)Hum Mutat2003225418419
  • PoltenAFluhartyALFluhartyCBKapplerJvon FiguraKGieselmannVMolecular basis of different forms of metachromatic leukodystrophyN Engl J Med1991324118221670590
  • BergerJLöschlBBernheimerHOccurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophyAm J Med Genet19976933353409096767
  • SchestagFYaghootfamAHabethaMThe functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase ABiochem J2002367Pt 249950412086582
  • HGMD® [database on the Internet]Cardiff, UKCardiff University Available from: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ARSAAccessed April 4, 2017