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Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy.
Torii T, Miyamoto Y, Yamauchi J, Tanoue A. Torii T, et al. Pediatr Int. 2014 Oct;56(5):659-66. doi: 10.1111/ped.12450. Pediatr Int. 2014. PMID: 25040584 Review.
Pelizaeus-Merzbacher disease (PMD) is a rare leukodystrophy that causes severe dysmyelination in the central nervous system in infancy and early childhood. ...These findings support the development of a new therapy for PMD and these treatments may improve the qualit …
Pelizaeus-Merzbacher disease (PMD) is a rare leukodystrophy that causes severe dysmyelination in the central nervous system in infanc …
Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics.
Miyamoto Y, Eguchi T, Kawahara K, Hasegawa N, Nakamura K, Funakoshi-Tago M, Tanoue A, Tamura H, Yamauchi J. Miyamoto Y, et al. Biochem Biophys Res Commun. 2015 Jul 3;462(3):275-81. doi: 10.1016/j.bbrc.2015.04.132. Epub 2015 May 6. Biochem Biophys Res Commun. 2015. PMID: 25957474
Myelin sheaths play a key role in homeostasis of the nervous system, but their related disorders lead not only to dismyelination and repeated demyelination but also to severe neuropathies. ...In experiments using a fluorescent dye probe, this mutation decreases the …
Myelin sheaths play a key role in homeostasis of the nervous system, but their related disorders lead not only to dismyelination and …
Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum.
Miyamoto Y, Torii T, Eguchi T, Nakamura K, Tanoue A, Yamauchi J. Miyamoto Y, et al. J Clin Neurosci. 2014 Jun;21(6):1033-9. doi: 10.1016/j.jocn.2013.09.014. Epub 2013 Nov 14. J Clin Neurosci. 2014. PMID: 24417797
These results suggest that a disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments, possibly to mediate a disease-associated phenotype, which is similar to what is seen with PLP1....
These results suggest that a disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments, po …
Pelizaeus-Merzbacher disease-associated proteolipid protein 1 inhibits oligodendrocyte precursor cell differentiation via extracellular-signal regulated kinase signaling.
Miyamoto Y, Torii T, Tanoue A, Yamauchi J. Miyamoto Y, et al. Biochem Biophys Res Commun. 2012 Jul 27;424(2):262-8. doi: 10.1016/j.bbrc.2012.06.101. Epub 2012 Jun 27. Biochem Biophys Res Commun. 2012. PMID: 22750001
Among previously identified gene alternations, multiplication of the plp1 gene causes increased expression of PLP1, resulting in a phenotype with severe dysmyelination in human and also rodent models. ...
Among previously identified gene alternations, multiplication of the plp1 gene causes increased expression of PLP1, resulting in a ph …
The atypical Guanine-nucleotide exchange factor, dock7, negatively regulates schwann cell differentiation and myelination.
Yamauchi J, Miyamoto Y, Hamasaki H, Sanbe A, Kusakawa S, Nakamura A, Tsumura H, Maeda M, Nemoto N, Kawahara K, Torii T, Tanoue A. Yamauchi J, et al. J Neurosci. 2011 Aug 31;31(35):12579-92. doi: 10.1523/JNEUROSCI.2738-11.2011. J Neurosci. 2011. PMID: 21880919 Free PMC article.
It also results in a shorter duration of activation of Rac/Cdc42 and JNK, which is the negative regulator of myelination, and the earlier activation of Rho and Rho-kinase, which is the positive regulator of myelination. ...They exhibited a decreased expression of Do …
It also results in a shorter duration of activation of Rac/Cdc42 and JNK, which is the negative regulator of myelination, and the ear …
The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway.
Yamauchi J, Torii T, Kusakawa S, Sanbe A, Nakamura K, Takashima S, Hamasaki H, Kawaguchi S, Miyamoto Y, Tanoue A. Yamauchi J, et al. J Neurosci Res. 2010 Nov 1;88(14):3189-97. doi: 10.1002/jnr.22460. J Neurosci Res. 2010. PMID: 20645406
Four missense mutations of Rab7, a small GTPase of the Rab family involved in intracellular vesicular trafficking, are associated with the CMT2B phenotype. ...Thus, VPA has a previously unknown potential to improve defective neuritogenesis associated with CMT2B in v …
Four missense mutations of Rab7, a small GTPase of the Rab family involved in intracellular vesicular trafficking, are associated wit …
Cdk5 phosphorylation of WAVE2 regulates oligodendrocyte precursor cell migration through nonreceptor tyrosine kinase Fyn.
Miyamoto Y, Yamauchi J, Tanoue A. Miyamoto Y, et al. J Neurosci. 2008 Aug 13;28(33):8326-37. doi: 10.1523/JNEUROSCI.1482-08.2008. J Neurosci. 2008. PMID: 18701695 Free PMC article.
Myelin formation of the CNS is a complex and dynamic process. Before the onset of myelination, oligodendrocytes (OLs), the myelin-forming glia of the CNS, proliferate and migrate along axons. ...PDGF stimulates Cdk5 activity in a time-dependent manner, whereas suppr …
Myelin formation of the CNS is a complex and dynamic process. Before the onset of myelination, oligodendrocytes (OLs), the myelin-for …
Protective effect of geranylgeranylacetone via enhancement of HSPB8 induction in desmin-related cardiomyopathy.
Sanbe A, Daicho T, Mizutani R, Endo T, Miyauchi N, Yamauchi J, Tanonaka K, Glabe C, Tanoue A. Sanbe A, et al. PLoS One. 2009;4(4):e5351. doi: 10.1371/journal.pone.0005351. Epub 2009 Apr 28. PLoS One. 2009. PMID: 19399179 Free PMC article.
Overexpression of HSPB8 led to a reduction in amyloid oligomer and aggregate formation, resulting in improved cardiac function and survival. ...CONCLUSIONS/SIGNIFICANCE: Expression of small HSPs such as HSPB8 and HSPB1 by GGA may be a new therapeutic strategy for pa …
Overexpression of HSPB8 led to a reduction in amyloid oligomer and aggregate formation, resulting in improved cardiac function and su …
Hepatocyte transplantation using a living donor reduced graft in a baby with ornithine transcarbamylase deficiency: a novel source of hepatocytes.
Enosawa S, Horikawa R, Yamamoto A, Sakamoto S, Shigeta T, Nosaka S, Fujimoto J, Nakazawa A, Tanoue A, Nakamura K, Umezawa A, Matsubara Y, Matsui A, Kasahara M. Enosawa S, et al. Liver Transpl. 2014 Mar;20(3):391-3. doi: 10.1002/lt.23800. Epub 2014 Feb 3. Liver Transpl. 2014. PMID: 24273015 No abstract available.
Etiology of biliary atresia as a developmental anomaly: recent advances.
Nakamura K, Tanoue A. Nakamura K, et al. J Hepatobiliary Pancreat Sci. 2013 Jun;20(5):459-64. doi: 10.1007/s00534-013-0604-4. J Hepatobiliary Pancreat Sci. 2013. PMID: 23567964 Review.
For new therapeutic options other than liver transplantation to be developed, a greater understanding of the pathogenesis of BA is indispensable. The fact that the pathology of BA develops during a period of biliary growth and remodeling suggests an involvement of d …
For new therapeutic options other than liver transplantation to be developed, a greater understanding of the pathogenesis of BA is in …
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