Genomes and Genes
R P Erickson
Affiliation: University of Arizona
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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...
- 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. ..
- 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...
- 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. ..
- 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