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Items: 13

1.
Consequences of Amyloid‐β Deficiency for the Liver
Gayane Hrachia Buniatian, Ute Schwinghammer, Roman Tremmel, Holger Cynis, Thomas S. Weiss, Ralf Weiskirchen, Volker M. Lauschke, Sonia Youhanna, Isbaal Ramos, Maria Valcarcel, Torgom Seferyan, Jens‐Ulrich Rahfeld, Vera Rieckmann, Kathrin Klein, Marine Buadze, Victoria Weber, Valentina Kolak, Rolf Gebhardt, Scott L. Friedman, Ulrike C. Müller, Matthias Schwab, Lusine Danielyan
Adv Sci (Weinh) 2024 May; 11(18): 2307734. Published online 2024 Mar 2. doi: 10.1002/advs.202307734
PMCID:
PMC11095235
AbstractArticlePDF–19M
2.
Redescription and Molecular Characterisation of Derogenes ruber Lühe, 1900 (Hemiuroidea: Derogenidae) from Chelidonichthys lastoviza (Scorpaeniformes: Triglidae) in the Western Mediterranean
Kamilia Gharbi, Chahinez Bouguerche, Mohammed Ahmed, Gerardo Pérez-Ponce de León, Fadila Tazerouti
Acta Parasitol. 2024; 69(1): 309–323. Published online 2023 Dec 8. doi: 10.1007/s11686-023-00749-z
PMCID:
PMC11001720
AbstractArticlePDF–2.0M
3.
Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review
Xu Zhang, Feng Xiang, Desheng Li, Fei Yang, Shengyuan Yu, Xiangqing Wang
BMC Neurol. 2024; 24: 15. Published online 2024 Jan 2. doi: 10.1186/s12883-023-03480-4
PMCID:
PMC10759640
AbstractArticlePDF–1.8M
4.
5-Aminolevulinic acid bypasses mitochondrial complex I deficiency and corrects physiological dysfunctions in Drosophila
Naoko Nozawa, Marie Noguchi, Kanako Shinno, Taro Saito, Akiko Asada, Takuya Ishii, Kiwamu Takahashi, Masahiro Ishizuka, Kanae Ando
Hum Mol Genet. 2023 Aug 15; 32(16): 2611–2622. Published online 2023 Jun 26. doi: 10.1093/hmg/ddad092
PMCID:
PMC10407699
AbstractArticlePDF–1.8M
5.
Modeling mitochondrial DNA diseases: from base editing to pluripotent stem‐cell‐derived organoids
Isabella Tolle, Valeria Tiranti, Alessandro Prigione
EMBO Rep. 2023 Apr; 24(4): e55678. Published online 2023 Mar 6. doi: 10.15252/embr.202255678
PMCID:
PMC10074100
AbstractArticlePDF–2.3M
6.
Genome-wide DNA methylation status of Mongolians exhibits signs of cellular stress response related to their nomadic lifestyle
Yuta Inaba, Sadahiko Iwamoto, Kazuhiro Nakayama
J Physiol Anthropol. 2022; 41: 30. Published online 2022 Aug 19. doi: 10.1186/s40101-022-00305-0
PMCID:
PMC9388360
AbstractArticlePDF–1.1M
7.
African Mitochondrial DNA Haplogroup L2 Is Associated With Slower Decline of β-cell Function and Lower Incidence of Diabetes Mellitus in Non-Hispanic, Black Women Living With Human Immunodeficiency Virus
Jing Sun, Todd T Brown, Weiqun Tong, David Samuels, Phyllis Tien, Brahim Aissani, Bradley Aouizerat, Maria Villacres, Mark H Kuniholm, Deborah Gustafson, Katherine Michel, Mardge Cohen, Michael Schneider, Adaora A Adimora, Mohammed K Ali, Hector Bolivar, Todd Hulgan
Clin Infect Dis. 2020 Oct 15; 71(8): e218–e225. Published online 2020 Jan 12. doi: 10.1093/cid/ciaa026
PMCID:
PMC7755007
AbstractArticlePDF–367K
8.
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, Elena Schiff, Rola Ba-Abbad, Samantha Malka, Ainoa Gimenez, Michalis Georgiou, Genevieve Wright, Monica Armengol, Hannah Knight, Menachem Katz, Mariya Moosajee, Patrick Yu-Wai-Man, Anthony T. Moore, Michel Michaelides, Andrew R. Webster, Omar A. Mahroo
Ophthalmology. 2020 Oct; 127(10): 1384–1394. doi: 10.1016/j.ophtha.2020.04.008
PMCID:
PMC7520514
AbstractArticlePDF–1.8M
9.
Overexpression of CXCL2 inhibits cell proliferation and promotes apoptosis in hepatocellular carcinoma
Jun Ding, Kangdi Xu, Jie Zhang, Bingyi Lin, Yubo Wang, Shengyong Yin, Haiyang Xie, Lin Zhou, Shusen Zheng
BMB Rep. 2018 Dec; 51(12): 630–635. Published online 2018 Dec 31. doi: 10.5483/BMBRep.2018.51.12.140
PMCID:
PMC6330937
AbstractArticlePDF–1.3M
10.
Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency
Yan-Yan Ma, Xi-Yuan Li, Zhi-Qin Li, Ji-Qing Song, Jing Hou, Jian-Hua Li, Li Sun, Jun Jiang, Yan-Ling Yang
Medicine (Baltimore) 2018 Aug; 97(32): e11606. Published online 2018 Aug 10. doi: 10.1097/MD.0000000000011606
PMCID:
PMC6133606
AbstractArticlePDF–185K
11.
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
John P. Kemp, Paul M. Smith, Angela Pyle, Vivienne C. M. Neeve, Helen A. L. Tuppen, Ulrike Schara, Beril Talim, Haluk Topaloglu, Elke Holinski-Feder, Angela Abicht, Birgit Czermin, Hanns Lochmüller, Robert McFarland, Patrick F. Chinnery, Zofia M.A. Chrzanowska-Lightowlers, Robert N. Lightowlers, Robert W. Taylor, Rita Horvath
Brain. 2011 Jan; 134(1): 183–195. Published online 2010 Dec 17. doi: 10.1093/brain/awq320
PMCID:
PMC3707321
AbstractArticlePDF–436K
12.
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations
Ronald Roepman, Stef J. F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Elmar Krieger, Paulo A. Ferreira, Frans P. M. Cremers
Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51): 18520–18525. Published online 2005 Dec 9. doi: 10.1073/pnas.0505774102
PMCID:
PMC1317916
AbstractArticlePDF–650K
13.
Transcriptional Profile Analysis of RPGRORF15 Frameshift Mutation Identifies Novel Genes Associated with Retinal Degeneration
Sem Genini, Barbara Zangerl, Julianna Slavik, Gregory M. Acland, William A. Beltran, Gustavo D. Aguirre
Invest Ophthalmol Vis Sci. 2010 Nov; 51(11): 6038–6050. doi: 10.1167/iovs.10-5443
PMCID:
PMC3061521
AbstractArticlePDF–1.3M

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