R P Erickson


Affiliation: University of Arizona
Country: USA


  1. Erickson R, Larson Thomé K, Valenzuela R, Whitaker S, Shub M. Navajo microvillous inclusion disease is due to a mutation in MYO5B. Am J Med Genet A. 2008;146A:3117-9 pubmed publisher
    ..We have developed a simple restriction enzyme based assay that allows for rapid screening for this mutation. ..
  2. Erickson R, Borbon I. Co-treatment with probucol does not improve lung pathology in hydroxypropyl-β-cyclodextrin-treated Npc1-/- mice. J Appl Genet. 2019;60:175-178 pubmed publisher
    ..Other physical, biochemical, and pulmonary function parameters were not much changed. There were trends towards improved lung elastance (p = 0.09) and compliance (p = 0.07). ..
  3. Erickson R. Recent advances in the study of somatic mosaicism and diseases other than cancer. Curr Opin Genet Dev. 2014;26:73-8 pubmed publisher
    ..A limited number of pathways seem involved in these disorders, some of which are also implicated in cancer. ..
  4. Erickson R. Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?. J Appl Genet. 2018;59:441-447 pubmed publisher
    ..NPC2 deficiency has large effects on fertility. These features of NPC1 and NPC2 are reviewed in regard to possible negative selection for heterozygotes carrying null and hypomorphic alleles. ..
  5. request reprint
    Erickson R. Somatic gene mutation and human disease other than cancer. Mutat Res. 2003;543:125-36 pubmed
    ..Although the parameters to allow careful quantitation are not yet available, it seems that the frequency of gene mutation in embryonic cells is not markedly different than that in the germ-line. ..
  6. Erickson R. Genes, environment, and orofacial clefting: N-acetyltransferase and folic acid. J Craniofac Surg. 2010;21:1384-7 pubmed publisher
    ..Our results support epidemiological findings in humans and possibly implicate altered cytosine methylation, potentially caused by environmental factors, at least in the A/J model. ..
  7. request reprint
    Erickson R, Skinner S, Jacquet H, Campion D, Buckley P, Mantripragada K, et al. Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male. Am J Med Genet A. 2003;123A:64-7 pubmed
    ..Thus, there is no evidence of any chromosome 22 trisomic material. In this case, the rare events of sex reversal and 22q11.2 deletion may have occurred together by chance. ..
  8. Deutsch G, Muralidhar A, Le E, Borbon I, Erickson R. Extensive macrophage accumulation in young and old Niemann-Pick C1 model mice involves the alternative, M2, activation pathway and inhibition of macrophage apoptosis. Gene. 2016;578:242-50 pubmed publisher
    ..Thus, activation of the alternative pathway is involved in Niemann-Pick C1 associated pulmonary macrophage accumulation, with low proliferation of these cells balanced by low levels of apoptosis. ..
  9. request reprint
    Erickson R, Díaz de Ståhl T, Bruder C, Dumanski J. A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients. Am J Med Genet A. 2007;143A:3302-8 pubmed
    ..2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome. ..

More Information


  1. Erickson R. Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia. J Appl Genet. 2013;54:215-24 pubmed publisher
    ..More research will be needed in order to definitively solve the second controversy. ..
  2. Marshall C, Borbon I, Erickson R. Relative efficacy of nicotinamide treatment of a mouse model of infantile Niemann-Pick C1 disease. J Appl Genet. 2017;58:99-102 pubmed publisher
    ..It is likely that this role is due to its function as a histone deacetylase (HDAC) inhibitor although another HDAC inhibitor, valproic acid, was without effect. Nicotinamide could also work by preventing/reversing oxidative stress. ..
  3. Erickson R, Dagenais S, Caulder M, Downs C, Herman G, Jones M, et al. Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. J Med Genet. 2001;38:761-6 pubmed
    ..FOXC2 mutations are highly penetrant with variable expressivity which is not explicable by the pattern of mutations. ..
  4. Erickson R, Strnatka D. Insulin receptor-related (Irr) is expressed in pre-implantation embryos: a possible relationship to "growth factor Y" and sex determination. Mol Reprod Dev. 2011;78:552 pubmed publisher
  5. Erickson R, McQueen C, Chau B, Gokhale V, Uchiyama M, Toyoda A, et al. An N-ethyl-N-nitrosourea-induced mutation in N-acetyltransferase 1 in mice. Biochem Biophys Res Commun. 2008;370:285-8 pubmed publisher
    ..Analysis of hepatic Nat1 activity with the selective substrate isoniazid showed that there was a significant reduction in enzymatic activity in the homozygous mutants compared to the parental strain. ..
  6. Erickson R, Larson Thomé K, Weberg L, Szybinska A, Mossakowska M, Styczynska M, et al. Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population. Neurosci Lett. 2008;447:153-7 pubmed publisher
    ..These findings can also be interpreted as indicating a role for NPC1 in aging, a role also suggested by NPC1's role in Dauer formation (hibernation, a longevity state) in Caenorhabditis elegans. ..
  7. request reprint
    Erickson R, Cao W, Acuña D, Strnatka D, Hunter R, Chau B, et al. Confirmation of the role of N-acetyltransferase 2 in teratogen-induced cleft palate using transgenics and knockouts. Mol Reprod Dev. 2008;75:1071-6 pubmed
    ..We conclude that only the A/J strain, with several loci affecting orofacial clefting, is influenced by Nat2. ..
  8. request reprint
    Erickson R, Bodensteiner J. Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population. Am J Med Genet A. 2007;143A:3309-13 pubmed
    ..In addition to retinal colobomata, these patients also show severe microcephaly, mental retardation and short stature...
  9. request reprint
    Erickson R, Bhattacharyya A, Hunter R, Heidenreich R, Cherrington N. Liver disease with altered bile acid transport in Niemann-Pick C mice on a high-fat, 1% cholesterol diet. Am J Physiol Gastrointest Liver Physiol. 2005;289:G300-7 pubmed
    ..In conclusion, Npc1-/- mice on a high-fat diet provide an animal model of NPC cholestatic hepatitis and indicate a role for altered bile acid transport in its pathogenesis. ..
  10. Marshall C, Watkins Chow D, Palladino G, Deutsch G, Chandran K, Pavan W, et al. In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin. Gene. 2018;643:117-123 pubmed publisher
    ..At termination, the one mouse sacrificed for histological studies showed severe, diffuse pulmonary alveolar proteinosis suggesting that pulmonary abnormalities in NPC1 mouse models are not unique to the Npc1nih allele. ..
  11. request reprint
    Erickson R, Kiela M, Devine P, Hoyer P, Heidenreich R. mdr1a deficiency corrects sterility in Niemann-Pick C1 protein deficient female mice. Mol Reprod Dev. 2002;62:167-73 pubmed
    ..The results show that a mdr1a mutation is an in vivo suppressor of female sterility in npc1 deficient mice...
  12. request reprint
    Erickson R, Kiela M, Garver W, Krishnan K, Heidenreich R. Cholesterol signaling at the endoplasmic reticulum occurs in npc1(-/-) but not in npc1(-/-), LDLR(-/-) mice. Biochem Biophys Res Commun. 2001;284:326-30 pubmed