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Items: 1 to 20 of 4528

1.
Correction to: “Hippocampal mutant APP and amyloid beta-induced cognitive decline, dendritic spine loss, defective autophagy, mitophagy and mitochondrial abnormalities in a mouse model of Alzheimer's disease”
Hum Mol Genet. 2023 Oct 15; 32(20): 3027. Published online 2023 Sep 9. doi: 10.1093/hmg/ddad147
Corrects:
Hum Mol Genet. 2018 Apr 15; 27(8): 1332–1342.
PMCID:
PMC11491644
CorrectionPDF–79K
2.
Correction to: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model
Hum Mol Genet. 2024 May 1; 33(9): 836. Published online 2024 Mar 21. doi: 10.1093/hmg/ddae017
Corrects:
Hum Mol Genet. 2018 Jul 15; 27(14): 2466–2476.
PMCID:
PMC11491625
CorrectionPDF–194K
3.
Correction to: The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy
Hum Mol Genet. 2023 Oct 15; 32(20): 3026. Published online 2023 Sep 5. doi: 10.1093/hmg/ddad145
Corrects:
Hum Mol Genet. 2019 Jul 1; 28(13): 2189–2200.
PMCID:
PMC11491603
CorrectionPDF–73K
4.
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity
Matea Pavešković, Ruth B De-Paula, Shamsideen A Ojelade, Evelyne K Tantry, Mikhail Y Kochukov, Suyang Bao, Surabi Veeraragavan, Alexandra R Garza, Snigdha Srivastava, Si-Yuan Song, Masashi Fujita, Duc M Duong, David A Bennett, Philip L De Jager, Nicholas T Seyfried, Mary E Dickinson, Jason D Heaney, Benjamin R Arenkiel, Joshua M Shulman
Hum Mol Genet. 2024 Oct 15; 33(20): 1815–1832. Published online 2024 Aug 16. doi: 10.1093/hmg/ddae115
PMCID:
PMC11458016
AbstractArticlePDF–2.3M
5.
Correction to: m6A RNA methylation regulates mitochondrial function
Hum Mol Genet. 2024 Aug 1; 33(15): 1378. Published online 2024 Jun 17. doi: 10.1093/hmg/ddae103
Corrects:
Hum Mol Genet. 2024 Jun 1; 33(11): 969–980.
PMCID:
PMC11262743
CorrectionPDF–74K
6.
Correction to: Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation
Hum Mol Genet. 2024 Jul 15; 33(14): 1273–1276. Published online 2024 May 31. doi: 10.1093/hmg/ddae091
Corrects:
Hum Mol Genet. 2020 Dec 15; 29(24): 3919–3934.
PMCID:
PMC11227623
CorrectionPDF–743K
7.
Illuminating mitochondrial translation through mouse models
Laetitia A Hughes, Oliver Rackham, Aleksandra Filipovska
Hum Mol Genet. 2024 Jun 1; 33(R1): R61–R79. Published online 2024 May 23. doi: 10.1093/hmg/ddae020
PMCID:
PMC11112386
AbstractArticlePDF–1.1M
8.
The molecular machinery for maturation of primary mtDNA transcripts
Ana Vučković, Christoph Freyer, Anna Wredenberg, Hauke S Hillen
Hum Mol Genet. 2024 Jun 1; 33(R1): R19–R25. Published online 2024 May 23. doi: 10.1093/hmg/ddae023
PMCID:
PMC11112384
AbstractArticlePDF–793K
9.
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease
Stephen P Burr, Patrick F Chinnery
Hum Mol Genet. 2024 Jun 1; 33(R1): R3–R11. Published online 2024 May 23. doi: 10.1093/hmg/ddae059
PMCID:
PMC11112380
AbstractArticlePDF–687K
10.
Mitochondrial protein synthesis quality control
Lidiia Koludarova, Brendan J Battersby
Hum Mol Genet. 2024 Jun 1; 33(R1): R53–R60. Published online 2024 May 23. doi: 10.1093/hmg/ddae012
PMCID:
PMC11112378
AbstractArticlePDF–1.1M
11.
PSMC5 insufficiency and P320R mutation impair proteasome function
Zhong-Qiu Yu, Jenny Carmichael, Galen A Collins, Maria Daniela D'Agostino, Mathieu Lessard, Helen V Firth, Pooja Harijan, Andrew E Fry, John Dean, Jiuchun Zhang, Usha Kini, Alfred L Goldberg, David C Rubinsztein
Hum Mol Genet. 2024 Sep 1; 33(17): 1506–1523. Published online 2024 May 22. doi: 10.1093/hmg/ddae085
PMCID:
PMC11336065
AbstractArticlePDF–1.8M
12.
Benfotiamine improves dystrophic pathology and exercise capacity in mdx mice by reducing inflammation and fibrosis
Chantal A Coles, Keryn G Woodman, Elizabeth M Gibbs, Rachelle H Crosbie, Jason D White, Shireen R Lamandé
Hum Mol Genet. 2024 Aug 1; 33(15): 1339–1355. Published online 2024 May 6. doi: 10.1093/hmg/ddae066
PMCID:
PMC11262745
AbstractArticlePDF–3.0M
13.
Impact of the inaccessible genome on genotype imputation and genome-wide association studies
Eva König, Jonathan Stewart Mitchell, Michele Filosi, Christian Fuchsberger
Hum Mol Genet. 2024 Jul 15; 33(14): 1207–1214. Published online 2024 Apr 20. doi: 10.1093/hmg/ddae062
PMCID:
PMC11227617
AbstractArticlePDF–1005K
14.
Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model
Emily A McKaige, Clara Lee, Vanessa Calcinotto, Saveen Giri, Simon Crawford, Meagan J McGrath, Georg Ramm, Robert J Bryson-Richardson
Hum Mol Genet. 2024 Jul 15; 33(14): 1195–1206. Published online 2024 Apr 15. doi: 10.1093/hmg/ddae061
PMCID:
PMC11227618
AbstractArticlePDF–2.0M
15.
Correction to: Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy
Hum Mol Genet. 2024 Jun 1; 33(11): 1020. Published online 2024 Apr 12. doi: 10.1093/hmg/ddae069
Corrects:
Hum Mol Genet. 2020 Dec 15; 29(24): 3945–3953.
PMCID:
PMC11102590
CorrectionPDF–119K
16.
Correction to: Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
Hum Mol Genet. 2024 May 15; 33(10): 931–933. Published online 2024 Apr 3. doi: 10.1093/hmg/ddae053
Corrects:
Hum Mol Genet. 2009 Jun 15; 18(12): 2099–2114.
PMCID:
PMC11070133
CorrectionPDF–552K
17.
Melanoma-associated fibroblasts in tumor-promotion flammation and antitumor immunity: novel mechanisms and potential immunotherapeutic strategies
Qiujun Zhou, Xiaoliang Jin, Ying Zhao, Yueping Wang, Maocan Tao, Yi Cao, Xiaohu Yin
Hum Mol Genet. 2024 Jul 1; 33(13): 1186–1193. Published online 2024 Mar 27. doi: 10.1093/hmg/ddae056
PMCID:
PMC11190611
AbstractArticlePDF–567K
18.
A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy
Yosuke Hashimoto, Claude Besmond, Nathalie Boddaert, Arnold Munnich, Matthew Campbell
Hum Mol Genet. 2024 Jun 15; 33(12): 1055–1063. Published online 2024 Mar 17. doi: 10.1093/hmg/ddae038
PMCID:
PMC11153337
AbstractArticlePDF–1.6M
19.
Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F
Miriam Öttl, Ruud F Toonen, Matthijs Verhage
Hum Mol Genet. 2024 Jun 1; 33(11): 991–1000. Published online 2024 Mar 15. doi: 10.1093/hmg/ddae035
PMCID:
PMC11102591
AbstractArticlePDF–1.3M
20.
Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas
Ranveig S Brekke, Anny Gravdal, Khadija El Jellas, Grace E Curry, Jianguo Lin, Steven J Wilhelm, Solrun J Steine, Eric Mas, Stefan Johansson, Mark E Lowe, Bente B Johansson, Xunjun Xiao, Karianne Fjeld, Anders Molven
Hum Mol Genet. 2024 Jun 1; 33(11): 1001–1014. Published online 2024 Mar 14. doi: 10.1093/hmg/ddae034
PMCID:
PMC11102595
AbstractArticlePDF–2.3M

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