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2014 6
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34 results

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Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.
Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrøm L, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Siitonen A, Iwaki H, Leonard H, Noyce AJ, Tan M, Gibbs JR, Hernandez DG, Scholz SW, Jankovic J, Shulman LM, Lesage S, Corvol JC, Brice A, van Hilten JJ, Marinus J; 23andMe Research Team; Eerola-Rautio J, Tienari P, Majamaa K, Toft M, Grosset DG, Gasser T, Heutink P, Shulman JM, Wood N, Hardy J, Morris HR, Hinds DA, Gratten J, Visscher PM, Gan-Or Z, Nalls MA, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Mov Disord. 2019 Jun;34(6):866-875. doi: 10.1002/mds.27659. Epub 2019 Apr 7. Mov Disord. 2019. PMID: 30957308 Free PMC article.
We found two genome-wide significant association signals, one at SNCA and the other a protein-coding variant in TMEM175, both of which are known PD risk loci and a Bonferroni-corrected significant effect at other known PD risk loci, GBA, INPP5F/BAG3, FAM47E/SCARB2, and MCCC1 …
We found two genome-wide significant association signals, one at SNCA and the other a protein-coding variant in TMEM175, both of which are k …
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.
Cheng Y, Chen P, Yu Z, Yin X, Zhang C, Miao H, Huang X. Cheng Y, et al. Clin Chim Acta. 2023 Mar 1;542:117266. doi: 10.1016/j.cca.2023.117266. Epub 2023 Feb 21. Clin Chim Acta. 2023. PMID: 36822454
BACKGROUND: 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal recessive inborn defect of leucine catabolism caused by MCCC1 or MCCC2 variants. 3-MCCD is considered to be a relatively benign disorder with favorable outcome. ... …
BACKGROUND: 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal recessive inborn defect of leuc …
Collaborative regression.
Gross SM, Tibshirani R. Gross SM, et al. Biostatistics. 2015 Apr;16(2):326-38. doi: 10.1093/biostatistics/kxu047. Epub 2014 Nov 17. Biostatistics. 2015. PMID: 25406332 Free PMC article.
One approach that has been proposed for dealing with these type of data is "sparse multiple canonical correlation analysis" (sparse mCCA). All of the current sparse mCCA techniques are biconvex and thus have no guarantees about reaching a global optimum. We propose …
One approach that has been proposed for dealing with these type of data is "sparse multiple canonical correlation analysis" (sparse mCCA …
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
Fonseca H, Azevedo L, Serrano C, Sousa C, Marcão A, Vilarinho L. Fonseca H, et al. Gene. 2016 Dec 15;594(2):203-210. doi: 10.1016/j.gene.2016.09.003. Epub 2016 Sep 4. Gene. 2016. PMID: 27601257
This study reports data mainly obtained from the Portuguese newborn screening program collected over a ten-year period. Analysis of the MCCC1 and MCCC2 genes yielded 26 previously unreported mutations and a variant of clinically unknown significance. ...Further, these muta …
This study reports data mainly obtained from the Portuguese newborn screening program collected over a ten-year period. Analysis of the M …
3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
Wang H, Liu S, Wang B, Yang Y, Yu B, Wang L, Wang T. Wang H, et al. J Pediatr Endocrinol Metab. 2019 Dec 18;32(12):1321-1326. doi: 10.1515/jpem-2018-0536. J Pediatr Endocrinol Metab. 2019. PMID: 31730530
Objective To evaluate whether 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) should be routinely screened in newborns. ...Only two children had mild feeding difficulties and vomiting. Eleven patients had complex variants of the MCCC1 gene, …
Objective To evaluate whether 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) should be routinely screened …
MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer.
Liu W, Chen S, Xie W, Wang Q, Luo Q, Huang M, Gu M, Lan P, Chen D. Liu W, et al. Cell Mol Biol Lett. 2023 Oct 12;28(1):80. doi: 10.1186/s11658-023-00487-0. Cell Mol Biol Lett. 2023. PMID: 37828426 Free PMC article.
BACKGROUND: The mitochondrial gene MCCC2, a subunit of the heterodimer of 3-methylcrotonyl-CoA carboxylase, plays a pivotal role in catabolism of leucine and isovaleric acid. ...
BACKGROUND: The mitochondrial gene MCCC2, a subunit of the heterodimer of 3-methylcrotonyl-CoA carboxylase, play …
Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.
Lim JL, Ng EY, Lim SY, Tan AH, Abdul-Aziz Z, Ibrahim KA, Gopalai AA, Tay YW, Vijayanathan Y, Toh TS, Lim SK, Bee PC, Puvanarajah SD, Viswanathan S, Looi I, Lim TT, Eow GB, Cheah WK, Tan EK, Ahmad-Annuar A. Lim JL, et al. Neurol Sci. 2021 Oct;42(10):4203-4207. doi: 10.1007/s10072-021-05056-x. Epub 2021 Feb 8. Neurol Sci. 2021. PMID: 33559030
BACKGROUND: Genome-wide association studies (GWAS) have shown that variants in the 3-methylcrotonyl-CoA carboxylase (MCCC1)/lysosome-associated membrane protein 3 (LAMP3) loci (rs10513789, rs12637471, rs12493050) reduce the risk of Parkinson's d …
BACKGROUND: Genome-wide association studies (GWAS) have shown that variants in the 3-methylcrotonyl-CoA carboxylase …
Association of three candidate genetic variants in RAB7L1/NUCKS1, MCCC1 and STK39 with sporadic Parkinson's disease in Han Chinese.
Wang L, Cheng L, Lu ZJ, Sun XY, Li JY, Peng R. Wang L, et al. J Neural Transm (Vienna). 2016 Apr;123(4):425-30. doi: 10.1007/s00702-016-1526-5. Epub 2016 Feb 25. J Neural Transm (Vienna). 2016. PMID: 26914237
Previous studies identified that polymorphisms RAB7L1/NUCKS1 rs823118, MCCC1 rs12637471 and STK39 rs1955337 to be the risk loci for Parkinson's disease (PD) in a Caucasian population. ...For the MCCC1 rs12637471, subjects with GA+GG genotypes had an increased risk c …
Previous studies identified that polymorphisms RAB7L1/NUCKS1 rs823118, MCCC1 rs12637471 and STK39 rs1955337 to be the risk loci for P …
Allele-specific expression of Parkinson's disease susceptibility genes in human brain.
Langmyhr M, Henriksen SP, Cappelletti C, van de Berg WDJ, Pihlstrøm L, Toft M. Langmyhr M, et al. Sci Rep. 2021 Jan 12;11(1):504. doi: 10.1038/s41598-020-79990-9. Sci Rep. 2021. PMID: 33436766 Free PMC article.
Allele-specific expression was identified for 9 out of 12 genes tested (GBA, TMEM175, RAB7L1, NUCKS1, MCCC1, BCKDK, ZNF646, LZTS3, and WDHD1) in brain tissue samples. ...Allele-specific effects were confirmed in whole blood for three genes (BCKDK, LZTS3 and MCCC1), …
Allele-specific expression was identified for 9 out of 12 genes tested (GBA, TMEM175, RAB7L1, NUCKS1, MCCC1, BCKDK, ZNF646, LZTS3, an …
SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.
Zhao A, Li Y, Niu M, Li G, Luo N, Zhou L, Kang W, Liu J. Zhao A, et al. J Cell Mol Med. 2020 Aug;24(15):8744-8752. doi: 10.1111/jcmm.15508. Epub 2020 Jul 11. J Cell Mol Med. 2020. PMID: 32652860 Free PMC article.
The impact of SNPs on gene expression was investigated by analysing the SNP-gene association in the expression quantitative trait loci (eQTL) data sets. rs8180209 of SNCA (allele model: P = .047, OR = 0.77; additive model: P = .047, OR = 0.77), rs2270968 of MCCC1 (dominant …
The impact of SNPs on gene expression was investigated by analysing the SNP-gene association in the expression quantitative trait loci (eQTL …
34 results