The DOI matches its Crossref record.
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Genetic PSAP deficiency in humans also causes various forms of progressive neurodegenerative conditions depending on the type of mutation in the PSAP gene (48–51).”
From Treatment of a genetic brain disease by CNS-wide microglia replacement (2022) · cites this paper as [51]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
No references could be resolved yet.
Research works printed but not linked: 140
- Aicardì, 1998, Disease of the nervous system in childhood, 10.1097/00005072-199812000-00014 · DOI
- Al-Hassnan, 2009, Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature, J Child Neurol, 24, 1513, 10.1177/0883073809341269 · DOI
- Anlar, 2006, Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations, Dev Med Child Neurol, 48, 383, 10.1017/S001216220600082X · DOI
- Arbour, 2000, Variable onset of metachromatic leukodystrophy in a Vietnamese family, Pediatr Neurol, 23, 173, 10.1016/S0887-8994(00)00164-8 · DOI
- Barcenas, 2014, Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry, Clin Chim Acta, 433, 39, 10.1016/j.cca.2013.12.016 · DOI
- Barth, 1993, Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients, Hum Mol Genet, 2, 2117, 10.1093/hmg/2.12.2117 · DOI
- Barth, 1995, Identification of seven novel mutations associated with metachromatic leukodystrophy, Hum Mutat, 6, 170, 10.1002/humu.1380060210 · DOI
- Baum, 1959, The assay of arylsulpahatases A and B in human urine, Clin Chim Acta, 4, 453, 10.1016/0009-8981(59)90119-6 · DOI
- Baumann, 2002, Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships, J Physiol Paris, 96, 301, 10.1016/S0928-4257(02)00019-0 · DOI
- Berger, 1996, A new polymorphism of arylsulfatase A within the coding region, Hum Genet, 98, 348, 10.1007/s004390050221 · DOI
- Berger, 1999, Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity, Hum Mutat, 13, 61, 10.1002/(SICI)1098-1004(1999)13:1<61::AID-HUMU7>3.0.CO;2-H · DOI
- Berger, 1997, Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy, Am J Med Genet A, 69, 335, 10.1002/(SICI)1096-8628(19970331)69:3<335::AID-AJMG22>3.0.CO;2-R · DOI
- Berna, 2004, Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients, Am J Med Genet A, 129A, 277, 10.1002/ajmg.a.30118 · DOI
- Bertelli, 2006, Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy, J Clin Neurosci, 13, 443, 10.1016/j.jocn.2005.03.039 · DOI
- Biffi, 2008, Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation, Clin Genet, 74, 349, 10.1111/j.1399-0004.2008.01058.x · DOI
- Biffi, 2013, Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy, Science, 341, 1233158, 10.1126/science.1233158 · DOI · Paper page
- Bisgaard, 2009, Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy, Clin Genet, 75, 175, 10.1111/j.1399-0004.2008.01113.x · DOI
- Bohne, 1991, An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy, Hum Genet, 87, 155, 10.1007/BF00204172 · DOI
- Cesani, 2009, Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy, Hum Mutat, 30, E936, 10.1002/humu.21093 · DOI
- Comabella, 2001, Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G→A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family, Ann Neurol, 50, 108, 10.1002/ana.1076 · DOI
- Coulter-Mackie, 1997, Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles, Am J Med Genet A, 73, 32, 10.1002/(SICI)1096-8628(19971128)73:1<32::AID-AJMG7>3.0.CO;2-R · DOI
- Coulter-Mackie, 2002, Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation, Can J Neurol, 29, 159, 10.1017/S0317167100120931 · DOI
- Coulter-Mackie, 1998, Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy, Hum Mutat Suppl, 1, S254, 10.1002/humu.1380110181 · DOI
- Coulter-Mackie, 2003, Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele, Mol Genet Metab, 79, 91, 10.1016/S1096-7192(03)00077-5 · DOI
- Coulter-Mackie, 1997, Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene, J Med Genet, 34, 493, 10.1136/jmg.34.6.493 · DOI
- Coulter-Mackie, 2001, Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism, J Med Genet, 38, E15, 10.1136/jmg.38.5.e15 · DOI
- Coulter-Mackie, 1995, Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22, J Med Genet, 32, 787, 10.1136/jmg.32.10.787 · DOI
- Deconinck, 2008, Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency, Eur J Paediatr Neurol, 12, 46, 10.1016/j.ejpn.2007.05.004 · DOI
- den Dunnen, 2001, Nomenclature for the description of human sequence variations, Hum Genet, 109, 121, 10.1007/s004390100505 · DOI
- Dorboz, 2009, Identification of a new Arylsulfatase A (ARSA) gene mutation Tunisian patients with metachromatic leukodystrophy (MLD), J Neurol Sci, 287, 278, 10.1016/j.jns.2009.07.023 · DOI
- Draghia, 1997, Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene, Hum Mutat, 9, 234, 10.1002/(SICI)1098-1004(1997)9:3<234::AID-HUMU4>3.0.CO;2-7 · DOI
- Duyff, 1996, Late-presenting metachromatic leukodystrophy, Lancet, 348, 1382, 10.1016/S0140-6736(05)65446-3 · DOI
- Eng, 2004, Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G >A mutation and a complete deletion of the ARSA gene, Am J Med Genet A, 128A, 95, 10.1002/ajmg.a.30085 · DOI
- Eng, 2003, Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD), Hum Mutat, 22, 418, 10.1002/humu.9190 · DOI
- Eto, 1993, Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease, Mol Cell Biochem, 119, 179, 10.1007/BF00926869 · DOI
- Felice, 2000, Adult-onset MLD: a gene mutation with isolated polyneuropathy, Neurology, 55, 1036, 10.1212/WNL.55.7.1036 · DOI
- Fluharty, 1993-2014, Arylsulfatase A deficiency
- Fluharty, 1991, Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient, Am J Hum Genet, 49, 1340
- Fokkema, 2011, LOVD v.2.0: the next generation in gene variant databases, Hum Mutat, 35, 557, 10.1002/humu.21438 · DOI
- Fukutani, 1999, Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia, Psychiatry Clin Neurosci, 53, 425, 10.1046/j.1440-1819.1999.00569.x · DOI
- Galla, 2013, An Italian cohort study identifies four new pathologic mutations in the ARSA gene, J Mol Neurosci, 50, 284, 10.1007/s12031-013-0006-8 · DOI
- Gallo, 2004, Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene, J Neurol Neurosurg Psychiatr, 75, 655, 10.1136/jnnp.2003.017400 · DOI
- Gelb, 2015, Newborn screening for lysosomal storage diseases, Clin Chem., 61, 335, 10.1373/clinchem.2014.225771 · DOI
- Gieselmann, 1991, Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy, Am J Hum Genet, 49, 407
- Gieselmann, 1989, Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site, Proc Natl Acad Sci USA, 86, 9436, 10.1073/pnas.86.23.9436 · DOI
- Gieselmann, 1992, In vitro mutagenesis of potential N-glycosylation sites of arylsulfatase A. Effects on glycosylation, phosphorylation, and intracellular sorting, J Biol Chem, 267, 13262, 10.1016/S0021-9258(18)42204-1 · DOI
- Gieselmann, 1994, Molecular genetics of metachromatic leukodystrophy, Hum Mutat, 4, 233, 10.1002/humu.1380040402 · DOI
- Gomez-Lira, 1998, Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation, Hum Genet, 102, 459, 10.1007/s004390050721 · DOI
- Gort, 1999, Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients, Hum Mutat, 14, 240, 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L · DOI
- Gort, 2000, Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation, Hum Mutat, 16, 375, 10.1002/1098-1004(200010)16:4<375::AID-HUMU21>3.0.CO;2-C · DOI
- Grossi, 2008, Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles, Hum Mutat, 29, E220, 10.1002/humu.20851 · DOI
- Hahn, 1982, A variant form of metachromatic leukodystrophy without arylsulfatase deficiency, Ann Neurol, 12, 33, 10.1002/ana.410120106 · DOI
- Halsall, 1999, Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case, Hum Mutat, 14, 447, 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1 · DOI
- Han, 2014, Ultra-performance liquid chromatography/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy, Rapid Commun Mass Spectrom, 28, 587, 10.1002/rcm.6823 · DOI
- Harvey, 1998, Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype, Hum Mol Genet, 7, 1215, 10.1093/hmg/7.8.1215 · DOI
- Harvey, 1994, Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene, Hum Mol Genet, 3, 207, 10.1093/hmg/3.1.207 · DOI
- Harvey, 1993, An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy, Hum Mutat, 2, 261, 10.1002/humu.1380020405 · DOI
- Hasegawa, 1993, Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy, DNA Cell Biol, 12, 493, 10.1089/dna.1993.12.493 · DOI
- Hasegawa, 1994, Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing, Hum Genet, 93, 415, 10.1007/BF00201666 · DOI
- Hayashi, 2011, Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case, Psychiatr Clin Neurosci, 65, 105, 10.1111/j.1440-1819.2010.02169.x · DOI
- Heinisch, 1995, Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area, Am J Hum Genet, 56, 51
- Henseler, 1996, Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy, Am J Hum Genet, 58, 65
- Hermann, 2000, Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy, Am J Med Genet A, 91, 68, 10.1002/(SICI)1096-8628(20000306)91:1<68::AID-AJMG13>3.0.CO;2-G · DOI
- Hess, 1996, Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy, Hum Mutat, 7, 311, 10.1002/(SICI)1098-1004(1996)7:4<311::AID-HUMU4>3.0.CO;2-B · DOI
- Holtschmidt, 1991, Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease, J Biol Chem, 266, 7556, 10.1016/S0021-9258(20)89483-6 · DOI
- Honke, 1993, An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A, Hum Genet, 92, 451, 10.1007/BF00216449 · DOI
- Ito, 2009, A case of adult onset metachromatic leukodystrophy, Psychiatr Clin Neurosci, 63, 127, 10.1111/j.1440-1819.2008.01896.x · DOI
- Kadiyska, 2007, Gene symbol: MLH1, Hum Genet, 120, 907
- Kafert, 1995, A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme, Hum Genet, 95, 201, 10.1007/BF00209402 · DOI
- Kang, 2010, Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy, Korean J Lab Med, 30, 516, 10.3343/kjlm.2010.30.5.516 · DOI
- Kappler, 1994, Complex arylsulfatase A alleles causing metachromatic leukodystrophy, Hum Mutat, 4, 119, 10.1002/humu.1380040205 · DOI
- Kappler, 1992, Late-onset metachromatic leukodystrophy: molecular pathology in two siblings, Ann Neurol, 31, 256, 10.1002/ana.410310305 · DOI
- Klemm, 1989, Adult-onset metachromatic leucodystrophy presenting without psychiatric symptoms, J Neurol, 236, 427, 10.1007/BF00314905 · DOI
- Kolodny E Fluarthy A 2001 Metachromatic Leukodystrophy and multiple sulfatase deficency: sulfatide lipidosis New York McGraw-Hill Professional
- Kolodny, 2007, The molecular and genetic basis of neurologic and psychiatric disease, 230
- Kondo, 1991, Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy, Am J Hum Genet, 48, 971
- Kretz, 1990, Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect, Proc Natl Acad Sci USA, 87, 2541, 10.1073/pnas.87.7.2541 · DOI · Paper page
- Kreysing, 1993, High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy, Am J Hum Genet, 53, 339
- Kuchar, 2009, Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations, Am J Med Genet Part A, 149A, 613, 10.1002/ajmg.a.32712 · DOI
- Kumperscak, 2007, Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs, Psychiatr Genet, 17, 85, 10.1097/YPG.0b013e3280298280 · DOI
- Kurosawa, 1998, Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations, J Inherit Metab Dis, 21, 781, 10.1023/A:1005405418215 · DOI
- Lissens, 1996, A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy, J Inherit Metab Dis, 19, 782, 10.1007/BF01799173 · DOI
- Lorioli, 2014, Critical issues for the proper diagnosis of Metachromatic Leukodystrophy, Gene, 537, 348, 10.1016/j.gene.2013.11.062 · DOI
- Lugowska, 2005a, Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries, Mol Genet Metab, 86, 353, 10.1016/j.ymgme.2005.07.010 · DOI
- Lugowska, 2005b, Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland, Clin Genet, 68, 48, 10.1111/j.1399-0004.2005.00451.x · DOI
- Lugowska, 2014, A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy, J Neurol Sci, 338, 214, 10.1016/j.jns.2013.12.030 · DOI
- Lugowska, 2010, Molecular bases of metachromatic leukodystrophy in Polish patients, J Hum Genet, 55, 394, 10.1038/jhg.2010.25 · DOI
- Lugowska, 2005, Homozygote for mutation c.1204 + 1G >A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type, J Appl Genet, 46, 337
- Lugowska, 2009, Molecular and clinical consequences of novel mutations in the arylsulfatase A gene, Clin Genet, 75, 57, 10.1111/j.1399-0004.2008.01108.x · DOI
- Luyten, 1995, Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant, Hum Genet, 96, 357, 10.1007/BF00210424 · DOI
- Luzi, 2013, Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy, Gene, 530, 323, 10.1016/j.gene.2013.08.065 · DOI
- Marcao, 1999, Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online, Hum Mutat, 13, 337, 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU14>3.0.CO;2-9 · DOI
- Marcao, 2003, Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T, Biochem Biophys Res Commun, 306, 293, 10.1016/S0006-291X(03)00969-0 · DOI
- Marcao, 2003, Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations, Am J Med Genet A, 116A, 238, 10.1002/ajmg.a.10822 · DOI
- Marcao, 2005, Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene, Arch Neurol, 62, 309, 10.1001/archneur.62.2.309 · DOI
- Matern, 2013, Newborn screening for lysosomal storage disorders and other neuronopathic conditions, Dev Disabil Res Rev, 17, 247, 10.1002/ddrr.1117 · DOI · Paper page
- Meikle, 2006, Newborn screening for lysosomal storage disorders, Mol Genet Metab., 88, 307, 10.1016/j.ymgme.2006.02.013 · DOI
- Nakano, 1989, Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator, J Biochem, 105, 152, 10.1093/oxfordjournals.jbchem.a122629 · DOI
- Niida, 2012, Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy, J Hum Genet, 57, 687, 10.1038/jhg.2012.97 · DOI
- Olkhovich, 2003, Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy, Mol Genet Metab, 80, 360, 10.1016/j.ymgme.2003.08.004 · DOI
- Onder, 2009, Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy, Neurol Res, 31, 60, 10.1179/016164108X323762 · DOI
- Pastor-Soler, 1994, Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene, Hum Mutat, 4, 199, 10.1002/humu.1380040305 · DOI
- Pastor-Soler, 1995, Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies, J Inherit Metab Dis, 18, 326, 10.1007/BF00710424 · DOI
- Perusi, 1997, A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene, Mol Cell Probes, 11, 449, 10.1006/mcpr.1997.0138 · DOI
- Perusi, 1999, Mutations associated with very late-onset metachromatic leukodystrophy, Clin Genet, 55, 130, 10.1034/j.1399-0004.1999.550211.x · DOI
- Poeppel, 2005, Missense mutations as a cause of metachromatic leukodystrophy, EBS J, 272, 1179
- Polten, 1991, Molecular basis of different forms of metachromatic leukodystrophy, N Eng J Med, 324, 18, 10.1056/NEJM199101033240104 · DOI
- Qu, 1999, Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease, Mol Genet Metab, 67, 206, 10.1006/mgme.1999.2865 · DOI
- Rafi, 2003, Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy, Mol Genet Metab, 79, 83, 10.1016/S1096-7192(03)00076-3 · DOI
- Rauschka, 2006, Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype, Neurology, 67, 859, 10.1212/01.wnl.0000234129.97727.4d · DOI
- Regis, 1995, An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient, Hum Genet, 96, 233, 10.1007/BF00207387 · DOI
- Regis, 2004, An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient, Eur J Hum Genet, 12, 150, 10.1038/sj.ejhg.5201100 · DOI
- Regis, 2002, Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity, Hum Genet, 110, 351, 10.1007/s00439-002-0701-y · DOI
- Regis, 1999, An Asn >Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity, Eur J Hum Genet, 7, 125, 10.1038/sj.ejhg.5200266 · DOI
- Regis, 1998, A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms, Hum Genet, 102, 50, 10.1007/s004390050652 · DOI
- Regis, 1997, A T >C transition causing a Leu >Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient, Clin Genet, 52, 65, 10.1111/j.1399-0004.1997.tb02518.x · DOI
- Regis, 2006, Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient, Mol Genet Metab, 89, 150, 10.1016/j.ymgme.2006.03.016 · DOI
- Ricketts, 1998, The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy, Hum Mutat, 12, 238, 10.1002/(SICI)1098-1004(1998)12:4<238::AID-HUMU3>3.0.CO;2-B · DOI
- Sandhoff, 2001, The metabolic and molecular bases of inherited diseases, 3371
- Schestag, 2002, The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A, Biochem J, 367, 499, 10.1042/bj20020286 · DOI
- Schneider, 2009, A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy, J Clin Psychiatr, 70, 1724, 10.4088/JCP.09l05010 · DOI
- Shapiro, 1979, Metachromatic leukodystrophy without arylsulfatase A deficiency, Pediatr Res, 13, 1179, 10.1203/00006450-197910000-00021 · DOI
- Shotelersuk, 2004, ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs, Int J Mol Med, 14, 683
- Shukla, 2011, Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population, J Neurol Sci, 301, 38, 10.1016/j.jns.2010.11.007 · DOI
- Siri, 2014, A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers, Neurogenetics, 15, 101, 10.1007/s10048-014-0390-4 · DOI
- Suzuki, 2008, A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy, Eur Neurol, 60, 310, 10.1159/000159928 · DOI
- Takahashi, 1993, [Two siblings with metachromatic leukodystrophy of adult and juvenile onset], Rinsho Shinkeigaku (Clin Neurol), 33, 312
- Tsuda, 1996, Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy, Brain Dev, 18, 400, 10.1016/0387-7604(96)00041-1 · DOI
- Tylki-Szymanska, 1996, Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele, Clin Genet, 50, 287, 10.1111/j.1399-0004.1996.tb02376.x · DOI
- Velakoulis, 2014, Metachromatic leukodystrophy presenting as bipolar disorder, Aust N Z J Psychiatry, 48, 1171, 10.1177/0004867414550212 · DOI
- Bulow, 2002, Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy, J Biol Chem, 277, 9455, 10.1074/jbc.M111993200 · DOI
- Figura, 2001, The metabolic and molecular bases of inherited diseases, 3695
- Wang, 2007, ARSA gene mutations in five Chinese metachromatic leukodystrophy patients, Pediatr Neurol, 36, 397, 10.1016/j.pediatrneurol.2007.02.011 · DOI
- Wrobe, 2000, A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD), J Inherit Metab Dis, 23, 63, 10.1023/A:1005603014401 · DOI
- Yaghootfam, 2004, Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy, Neurochem Res, 29, 933, 10.1023/B:NERE.0000021237.55037.35 · DOI
- Yang, 2014, [Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy], Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Chin J Med Genet, 31, 615
- Zhang, 1991, The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy, Hum Genet, 87, 211, 10.1007/BF00204185 · DOI
- Zlotogora, 1995, Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews, Hum Mutat, 5, 137, 10.1002/humu.1380050207 · DOI
- Zlotogora, 1994, A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy, J Med Genet, 31, 672, 10.1136/jmg.31.9.672 · DOI
- Zlotogora, 2007, The fate of 12 recessive mutations in a single village, Ann Hum Genet, 71, 202, 10.1111/j.1469-1809.2006.00308.x · DOI
Cited by
Alzheimer’s Patient Microglia Exhibit Enhanced Aging and Unique Transcriptional Activation
Srinivasan, K., Friedman, B. A., Etxeberria, A., Huntley, M. A., van der Brug, M. P., Foreman, O., Paw, J. S., Modrusan, Z., Beach, T. G., Serrano, G. E., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107843 · Cited by 427
Treatment of a genetic brain disease by CNS-wide microglia replacement
Shibuya, Y., Kumar, K. K., Mader, M. M.-D., Yoo, Y., Ayala, L. A., Zhou, M., Mohr, M. A., Neumayer, G., Kumar, I., Yamamoto, R., et al. (2022) · Science Translational Medicine · doi:10.1126/scitranslmed.abl9945 · Cited by 126
Gene therapy for metachromatic leukodystrophy
Rosenberg, J. B., Kaminsky, S. M., Aubourg, P., Crystal, R. G., & Sondhi, D. (2016) · Journal of Neuroscience Research · doi:10.1002/jnr.23792 · Cited by 91
Western, D., Yang, C., Timsina, J., Liu, M., Wang, C., Campbell, M. C., Kotzbauer, P., Perlmutter, J. S., Schindler, S. E., Morris, J. C., et al. (2026) · Science Translational Medicine · doi:10.1126/scitranslmed.adz2016 · Cited by 1
Metadata
- Authors
- Cesani, M., Lorioli, L., Grossi, S., Amico, G., Fumagalli, F., Spiga, I., Filocamo, M., & Biffi, A.
- Affiliations
- San Raffaele Telethon Institute for Gene Therapy; Division of Regenerative Medicine; Stem Cells and Gene Therapy; San Raffaele Scientific Institute; Milan Italy
- Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche; Istituto G. Gaslini; Genova Italy
- Clinical Molecular Biology Laboratory; San Raffaele Hospital; Milan Italy
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2015-11-04
- Volume
- 37
- Issue
- 1
- Pages
- 16-27
- ISSN
- 1059-7794
- Cited by
- 135
- References
- 0
- Language
- en
- Funders
- Contract grant sponsor:
- Telethon Network of Genetic Biobanks (GTB12001)
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. https://app.cochat.ai/papers/10.1002/humu.22919
- The paper
- Cesani, M., Lorioli, L., Grossi, S., Amico, G., Fumagalli, F., Spiga, I., Filocamo, M., & Biffi, A. (2016). Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. Human Mutation. https://doi.org/10.1002/humu.22919