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2014 4
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Hereditary ataxias and paraparesias: clinical and genetic update.
Parodi L, Coarelli G, Stevanin G, Brice A, Durr A. Parodi L, et al. Curr Opin Neurol. 2018 Aug;31(4):462-471. doi: 10.1097/WCO.0000000000000585. Curr Opin Neurol. 2018. PMID: 29847346 Review.
Clear examples are the expanded phenotypes associated with mutations in SPG7, PNPLA6, GBA2, KIF1C, CYP7B1, FA2H, ATP13A2 and many others. Moreover, other genes not previously linked to HCAs and HSPs have been implicated in spastic or ataxic phenotypes. ...
Clear examples are the expanded phenotypes associated with mutations in SPG7, PNPLA6, GBA2, KIF1C, CYP7B1, FA2H, ATP13A2 and many oth …
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A. Perić S, et al. Cells. 2022 Sep 8;11(18):2804. doi: 10.3390/cells11182804. Cells. 2022. PMID: 36139378 Free PMC article.
A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. …
A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SP …
AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
Chen JY, Wu JF, Kimura A, Nittono H, Liou BY, Lee CS, Chen HS, Chiu YC, Ni YH, Peng SS, Lee WT, Tsai IJ, Chang MH, Chen HL. Chen JY, et al. Pediatr Neonatol. 2020 Feb;61(1):75-83. doi: 10.1016/j.pedneo.2019.06.009. Epub 2019 Jul 4. Pediatr Neonatol. 2020. PMID: 31337596 Free article.
We also tested healthy control subjects for a probable hot spot point mutation of CYP7B1. RESULTS: Among the 75 patients with infantile intrahepatic cholestasis tested during 2000 -2016, three had (4)-3-oxosteroid 5beta-reductase deficiency with AKR1D1 mutations, and three …
We also tested healthy control subjects for a probable hot spot point mutation of CYP7B1. RESULTS: Among the 75 patients with infanti …
SPG5 and multiple sclerosis: clinical and genetic overlap?
Criscuolo C, Carbone R, Lieto M, Peluso S, Guacci A, Filla A, Quarantelli M, Lanzillo R, Morra VB, De Michele G. Criscuolo C, et al. Acta Neurol Scand. 2016 Jun;133(6):410-4. doi: 10.1111/ane.12476. Epub 2015 Sep 15. Acta Neurol Scand. 2016. PMID: 26370385
BACKGROUND: Autosomal recessive (AR) spastic paraplegia type 5 (SPG5) is due to mutations in the CYP7B1 gene, encoding for the cytochrome P450-7B1, responsible for oxysterols 7alpha-hydroxylation. ...RESULTS: Forty-three patients had primary progressive, 26 relapsing remit …
BACKGROUND: Autosomal recessive (AR) spastic paraplegia type 5 (SPG5) is due to mutations in the CYP7B1 gene, encoding for the cytoch …
Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese.
Dong Y, Li XY, Wang XL, Xu F, Wang ZJ, Song Y, Li Q, Lin R, Wang C. Dong Y, et al. Neurosci Lett. 2021 Sep 14;761:136108. doi: 10.1016/j.neulet.2021.136108. Epub 2021 Jul 10. Neurosci Lett. 2021. PMID: 34256108
We identified 12 mutations in five genes in 9 (50%) patients, including 9 novel ones: SPG5A/CYP7B1 (c.851C > A; c.122 + 2 T > G), SPG11/KIAA1840 (c.1735 + 3_ 1735 + 6del AAGT); SPG7/SPG7 (c.1454G > A; c.1892_ 1906dup GAGGACGGGCCTCGG); SPG39/PNPLA6 (c.1591G > A; …
We identified 12 mutations in five genes in 9 (50%) patients, including 9 novel ones: SPG5A/CYP7B1 (c.851C > A; c.122 + 2 T > G …
HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.
Sager G, Turkyilmaz A, Ates EA, Kutlubay B. Sager G, et al. Acta Neurol Belg. 2022 Apr;122(2):391-399. doi: 10.1007/s13760-021-01649-7. Epub 2021 Apr 3. Acta Neurol Belg. 2022. PMID: 33813722
The 17 probands (14 males, 3 females) underwent whole exome sequencing. Five typical HSP genes (FA2H, AP4M1, AP4E1, CYP7B1, and MAG) and three genes not previously related to HSP (HACE1, GLRX5, ad ELP2) were identified in 14 probands. ...
The 17 probands (14 males, 3 females) underwent whole exome sequencing. Five typical HSP genes (FA2H, AP4M1, AP4E1, CYP7B1, and MAG) …
Cholesterol depletion sensitizes gallbladder cancer to cisplatin by impairing DNA damage response.
Zhang Y, Liu Y, Duan J, Wang H, Zhang Y, Qiao K, Wang J. Zhang Y, et al. Cell Cycle. 2019 Dec;18(23):3337-3350. doi: 10.1080/15384101.2019.1676581. Epub 2019 Oct 10. Cell Cycle. 2019. PMID: 31599189 Free PMC article.
The present study systematically examined the genes implicated in cholesterol homeostasis, and revealed altered gene expressions of de novo cholesterol biosynthesis and sterol sulfonation (SULT2B1), reduced bile acid synthesis (CYP7B1 and CYP39A1) and impaired sterol efflu …
The present study systematically examined the genes implicated in cholesterol homeostasis, and revealed altered gene expressions of de novo …
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL, Wang C, Wu S, Lu YQ, Lin XH, Su HZ, Zhao M, He J, Ma LX, Wang N, Chen WJ, Lin X. Dong EL, et al. Mol Neurodegener. 2018 Jul 6;13(1):36. doi: 10.1186/s13024-018-0269-1. Mol Neurodegener. 2018. PMID: 29980238 Free PMC article.
Moreover, haplotype analysis showed a unique haplotype was shared in 14 families carrying c.334C > T (p.R112(*)) mutation in CYP7B1 gene, suggesting the founder effect. Functionally, we observed significantly different patterns of mitochondrial dynamics and network, dec …
Moreover, haplotype analysis showed a unique haplotype was shared in 14 families carrying c.334C > T (p.R112(*)) mutation in CYP7B1 …
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
Schubert SF, Hoffjan S, Dekomien G. Schubert SF, et al. Mol Cell Probes. 2016 Feb;30(1):53-5. doi: 10.1016/j.mcp.2015.12.001. Epub 2015 Dec 20. Mol Cell Probes. 2016. PMID: 26714052
Here, we evaluated the spectrum and frequency of mutations in the CYP7B1, PNPLA6 and C19orf12 genes (causative for the subtypes SPG5A, SPG39 and SPG43, respectively) in a cohort of 63 unrelated HSP patients with suspected autosomal recessive inheritance. Two novel homozygo …
Here, we evaluated the spectrum and frequency of mutations in the CYP7B1, PNPLA6 and C19orf12 genes (causative for the subtypes SPG5A …
Interleukin-1 Induces the Release of Lubricating Phospholipids from Human Osteoarthritic Fibroblast-like Synoviocytes.
Thottakkattumana Parameswaran V, Hild C, Eichner G, Ishaque B, Rickert M, Steinmeyer J. Thottakkattumana Parameswaran V, et al. Int J Mol Sci. 2022 Feb 22;23(5):2409. doi: 10.3390/ijms23052409. Int J Mol Sci. 2022. PMID: 35269552 Free PMC article.
Simultaneously, IL-1ss upregulated the level of the PL transporter ABCA1 and of cholesterol hydroxylases CH25H and CYP7B1. IL-1ss and T0901317 stimulated the expression of SREBP1c, whereas only T0901317 enhanced SREBP2, HMGCR, APOE, LXRalpha, and ABCG1 additionally. (4) Co …
Simultaneously, IL-1ss upregulated the level of the PL transporter ABCA1 and of cholesterol hydroxylases CH25H and CYP7B1. IL-1ss and …
45 results