Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1967 1
1968 2
1969 1
1972 2
1973 1
1974 1
1975 3
1978 1
1979 1
1980 1
1982 1
1983 2
1985 1
1986 1
1987 4
1988 10
1989 3
1990 4
1991 5
1992 4
1993 6
1994 6
1995 5
1996 3
1997 5
1998 8
1999 3
2000 11
2001 8
2002 4
2003 4
2004 1
2005 4
2006 4
2007 2
2008 2
2009 1
2010 3
2011 2
2012 8
2013 6
2014 3
2015 5
2016 4
2017 1
2018 1
2019 1
2020 3
2022 1
2023 3

Text availability

Article attribute

Article type

Publication date

Search Results

159 results

Results by year

Filters applied: . Clear all
Page 1
Peroxisomal disorders.
Aubourg P, Wanders R. Aubourg P, et al. Handb Clin Neurol. 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. Handb Clin Neurol. 2013. PMID: 23622381 Review.
The single peroxisomal substrate transport deficiency group consists of only one disease, X-linked adrenoleukodystrophy. It is the purpose of this chapter to describe the current state of knowledge about the clinical, biochemical, cellular, and molecular aspects of …
The single peroxisomal substrate transport deficiency group consists of only one disease, X-linked adrenoleukodystrophy. It is …
Peroxisomal leukoencephalopathy.
Poll-The BT, Engelen M. Poll-The BT, et al. Semin Neurol. 2012 Feb;32(1):42-50. doi: 10.1055/s-0032-1306385. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422205 Review.
Peroxisomal leukoencephalopathies include diseases belonging to the Zellweger spectrum and the rhizomelic chondrodysplasia punctata spectrum, as well as some single enzyme defects of peroxisomal beta-oxidation. ...MRI characteristics in the severe phenotype of rhizo …
Peroxisomal leukoencephalopathies include diseases belonging to the Zellweger spectrum and the rhizomelic chondrodysplasia punctat …
The type-2 peroxisomal targeting signal.
Kunze M. Kunze M. Biochim Biophys Acta Mol Cell Res. 2020 Feb;1867(2):118609. doi: 10.1016/j.bbamcr.2019.118609. Epub 2019 Nov 18. Biochim Biophys Acta Mol Cell Res. 2020. PMID: 31751594 Free article. Review.
The type-2 peroxisomal targeting signal (PTS2) is one of two peptide motifs destining soluble proteins for peroxisomes. ...Although only a few PTS2-carrying proteins are known in humans, subjects lacking a functional import mechanism for these proteins suffer from the seve …
The type-2 peroxisomal targeting signal (PTS2) is one of two peptide motifs destining soluble proteins for peroxisomes. ...Although o …
Phytol in a pharma-medico-stance.
Islam MT, de Alencar MV, da Conceição Machado K, da Conceição Machado K, de Carvalho Melo-Cavalcante AA, de Sousa DP, de Freitas RM. Islam MT, et al. Chem Biol Interact. 2015 Oct 5;240:60-73. doi: 10.1016/j.cbi.2015.07.010. Epub 2015 Aug 19. Chem Biol Interact. 2015. PMID: 26296761 Review.
In addition, it may be considered as an important biomarker for some diseases such as Refsum's Disease (RD), Sjogren Larsson syndrome (SLS), rhizomelic chondrodysplasia punctata (RZCP), chronic polyneuropathy (CP), Zellweger's disease hyperpipecolic academia (ZDHA) …
In addition, it may be considered as an important biomarker for some diseases such as Refsum's Disease (RD), Sjogren Larsson syndrome (SLS), …
Cholesterol metabolism deficiency.
Jira P. Jira P. Handb Clin Neurol. 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. Handb Clin Neurol. 2013. PMID: 23622407 Review.
Six defects in the post-squalene segment of the pathway include: Smith-Lemli-Opitz syndrome, two X-linked dominant inherited and male-lethal disorders, Conradi-Hunermann-Happle syndrome and congenital hemidysplasia with ichthyosiform erythroderma and limb def …
Six defects in the post-squalene segment of the pathway include: Smith-Lemli-Opitz syndrome, two X-linked dominant inhe …
Alkyl-dihydroxyacetonephosphate synthase.
de Vet EC, van den Bosch H. de Vet EC, et al. Cell Biochem Biophys. 2000;32 Spring:117-21. doi: 10.1385/cbb:32:1-3:117. Cell Biochem Biophys. 2000. PMID: 11330037 Review.
In both cases, the enzyme appears to be synthesized as a precursor protein with a N-terminal cleavable presequence containing a peroxisomal targeting signal (PTS) type 2. Levels of the enzyme protein were found to be strongly reduced in human fibroblasts derived from Zellw …
In both cases, the enzyme appears to be synthesized as a precursor protein with a N-terminal cleavable presequence containing a peroxisomal …
Neurometabolic disease.
Moser HW. Moser HW. Curr Opin Neurol. 1998 Apr;11(2):91-5. doi: 10.1097/00019052-199804000-00002. Curr Opin Neurol. 1998. PMID: 9551286 Review.
Of great interest to the neurologist are the definitions of the molecular defects in Niemann-Pick C disease, Refsum disease, and five of the disorders of peroxisome biogenesis, including rhizomelic chondrodysplasia punctata. Duplication of the proteolipid protein ge …
Of great interest to the neurologist are the definitions of the molecular defects in Niemann-Pick C disease, Refsum disease, and five of the …
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD. Kanungo S, et al. Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114. Dev Disabil Res Rev. 2013. PMID: 23798009 Review.
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hyper-immun …
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that und …
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R. Cañueto J, et al. Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2. Br J Dermatol. 2012. PMID: 22121851 Review.
BACKGROUND: Conradi-Hunermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones and eyes. ...Patients' biochemical profiles did not reveal a relati …
BACKGROUND: Conradi-Hunermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chon …
Peroxisomes in brain development and function.
Berger J, Dorninger F, Forss-Petter S, Kunze M. Berger J, et al. Biochim Biophys Acta. 2016 May;1863(5):934-55. doi: 10.1016/j.bbamcr.2015.12.005. Epub 2015 Dec 11. Biochim Biophys Acta. 2016. PMID: 26686055 Free PMC article. Review.
159 results