PMC Articles for MedGen (Select 870881) - PMC

Marietta Fabiano, Naoto Oikawa, Anja Kerksiek, Jun-ichi Furukawa, Hirokazu Yagi, Koichi Kato, Ulrich Schweizer, Wim Annaert, Jongkyun Kang, Jie Shen, Dieter Lütjohann, Jochen Walter

Int J Mol Sci. 2024 May; 25(10): 5417. Published online 2024 May 16. doi: 10.3390/ijms25105417

PMCID:: PMC11121565

Abstract Article PDF–3.7M

Select item 111083514.

Endocytic membrane trafficking and neurodegenerative disease

Andrea M. A. Schreij, Edward A. Fon, Peter S. McPherson

Cell Mol Life Sci. 2016 Apr; 73(8): 1529–1545. Published online 2015 Dec 31. doi: 10.1007/s00018-015-2105-x

PMCID:: PMC11108351

Abstract Article PDF–766K

Select item 111054315.

Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis

Francesco Bellomo, Anna Signorile, Grazia Tamma, Marianna Ranieri, Francesco Emma, Domenico De Rasmo

Cell Mol Life Sci. 2018 Sep; 75(18): 3411–3422. Published online 2018 Mar 16. doi: 10.1007/s00018-018-2800-5

PMCID:: PMC11105431

Abstract Article PDF–3.5M

Select item 110940546.

RUFY4 deletion prevents pathological bone loss by blocking endo-lysosomal trafficking of osteoclasts

Minhee Kim, Jin Hee Park, Miyeon Go, Nawon Lee, Jeongin Seo, Hana Lee, Doyong Kim, Hyunil Ha, Taesoo Kim, Myeong Seon Jeong, Suree Kim, Taesoo Kim, Han Sung Kim, Dongmin Kang, Hyunbo Shim, Soo Young Lee

Bone Res. 2024; 12: 29. Published online 2024 May 15. doi: 10.1038/s41413-024-00326-8

PMCID:: PMC11094054

Abstract Article PDF–5.4M

Select item 110905177.

Unraveling the link between neuropathy target esterase NTE/SWS, lysosomal storage diseases, inflammation, abnormal fatty acid metabolism, and leaky brain barrier

Mariana I Tsap, Andriy S Yatsenko, Jan Hegermann, Bibiana Beckmann, Dimitrios Tsikas, Halyna R Shcherbata

eLife. 2024; 13: e98020. Published online 2024 Apr 25. doi: 10.7554/eLife.98020

PMCID:: PMC11090517

Abstract Article PDF–9.3M

Select item 110898078.

Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

Jixiang Du, Fuchen Liu, Xihan Liu, Dandan Zhao, Dongdong Wang, Hongsheng Sun, Chuanzhu Yan, Yuying Zhao

J Transl Med. 2024; 22: 449. Published online 2024 May 13. doi: 10.1186/s12967-024-05275-8

PMCID:: PMC11089807

Abstract Article PDF–2.9M

Select item 110883079.

Cardiomyocyte-specific deletion of the mitochondrial transporter Abcb10 causes cardiac dysfunction via lysosomal-mediated ferroptosis

Yura Do, Mikako Yagi, Haruka Hirai, Kenji Miki, Yukina Fukahori, Daiki Setoyama, Masatatsu Yamamoto, Tatsuhiko Furukawa, Yuya Kunisaki, Dongchon Kang, Takeshi Uchiumi

Biosci Rep. 2024 May 29; 44(5): BSR20231992. Published online 2024 May 10. doi: 10.1042/BSR20231992

PMCID:: PMC11088307

Abstract Article PDF–9.7M

Select item 1108404810.

A rare case of TFEB/6p21/VEGFA-amplified renal cell carcinoma diagnosed by whole-exome sequencing: clinicopathological and genetic feature report and literature review

Ruiqi Zhang, Meili Ding, Xingyao Zhu, Xiang Li, Qi Hu, Lin Tao, Wenhao Hu, Hong Zou

Diagn Pathol. 2024; 19: 66. Published online 2024 May 10. doi: 10.1186/s13000-024-01476-3

PMCID:: PMC11084048

Abstract Article PDF–2.7M

Select item 1108403711.

Deficiency of leucine-rich repeat kinase 2 aggravates thioacetamide-induced acute liver failure and hepatic encephalopathy in mice

Dan Li, Shu-fang Yu, Lin Lin, Jie-ru Guo, Si-mei Huang, Xi-lin Wu, Han-lin You, Xiao-juan Cheng, Qiu-yang Zhang, Yu-qi Zeng, Xiao-dong Pan

J Neuroinflammation. 2024; 21: 123. Published online 2024 May 9. doi: 10.1186/s12974-024-03125-4

PMCID:: PMC11084037

Abstract Article PDF–3.8M

Select item 1107737512.

TAZ deficiency impairs the autophagy-lysosomal pathway through NRF2 dysregulation and lysosomal dysfunction

Hyo Kyeong Kim, Hana Jeong, Mi Gyeong Jeong, Hee Yeon Won, Gibbeum Lee, Soo Han Bae, Miso Nam, Sung Hoon Lee, Geum-Sook Hwang, Eun Sook Hwang

Int J Biol Sci. 2024; 20(7): 2592–2606. Published online 2024 Apr 22. doi: 10.7150/ijbs.88897

PMCID:: PMC11077375

Abstract Article PDF–9.3M

Select item 1106905413.

Plasma exosomes impair microglial degradation of α‐synuclein through V‐ATPase subunit V1G1

Yunna Li, Yiming Wang, Liang Kou, Sijia Yin, Xiaosa Chi, Yadi Sun, Jiawei Wu, Zongjie Jin, Qiulu Zhou, Wenkai Zou, Tao Wang, Yun Xia

CNS Neurosci Ther. 2024 May; 30(5): e14738. Published online 2024 May 3. doi: 10.1111/cns.14738

PMCID:: PMC11069054

Abstract Article PDF–25M

Select item 1104929314.

Early Chronic Fluoxetine Treatment of Ts65Dn Mice Rescues Synaptic Vesicular Deficits and Prevents Aberrant Proteomic Alterations

S. Hossein Fatemi, Elysabeth D. Otte, Timothy D. Folsom, Arthur C. Eschenlauer, Randall J. Roper, Justin W. Aman, Paul D. Thuras

Genes (Basel) 2024 Apr; 15(4): 452. Published online 2024 Apr 3. doi: 10.3390/genes15040452

PMCID:: PMC11049293

Abstract Article PDF–3.5M

Select item 1103664015.

Loss of AMPK activity induces organelle dysfunction and oxidative stress during oocyte aging

Lin-Lin Hu, Mei-Hua Liao, Ya-Xi Liu, Chun-Hua Xing, Lan-Lan Nong, Feng-Lian Yang, Shao-Chen Sun

Biol Direct. 2024; 19: 29. Published online 2024 Apr 23. doi: 10.1186/s13062-024-00471-4

PMCID:: PMC11036640

Abstract Article PDF–11M

Select item 1101568216.

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany

Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob

Orphanet J Rare Dis. 2024; 19: 161. Published online 2024 Apr 13. doi: 10.1186/s13023-024-03174-1

PMCID:: PMC11015682

Abstract Article PDF–1.5M

Select item 1097011117.

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat

Bruno Hay Mele, Federica Rossetti, Maria Vittoria Cubellis, Maria Monticelli, Giuseppina Andreotti

Genes (Basel) 2024 Mar; 15(3): 290. Published online 2024 Feb 25. doi: 10.3390/genes15030290

PMCID:: PMC10970111

Abstract Article PDF–1.6M

Select item 1089925618.

TBC1D23 mediates Golgi-specific LKB1 signaling

Yingfeng Tu, Qin Yang, Min Tang, Li Gao, Yuanhao Wang, Jiuqiang Wang, Zhe Liu, Xiaoyu Li, Lejiao Mao, Rui zhen Jia, Yuan Wang, Tie-shan Tang, Pinglong Xu, Yan Liu, Lunzhi Dai, Da Jia

Nat Commun. 2024; 15: 1785. Published online 2024 Feb 27. doi: 10.1038/s41467-024-46166-2

PMCID:: PMC10899256

Abstract Article PDF–11M

Select item 1086310419.

Progranulin haploinsufficiency mediates cytoplasmic TDP-43 aggregation with lysosomal abnormalities in human microglia

Wonjae Sung, Min-Young Noh, Minyeop Nahm, Yong Sung Kim, Chang-Seok Ki, Young-Eun Kim, Hee-Jin Kim, Seung Hyun Kim

J Neuroinflammation. 2024; 21: 47. Published online 2024 Feb 13. doi: 10.1186/s12974-024-03039-1

PMCID:: PMC10863104

Abstract Article PDF–3.3M

Select item 1079779420.

A review and recommendations for oral chaperone therapy in adult patients with Fabry disease

Michał Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek, on behalf of the Polish Fabry Disease Collaborative Group

Orphanet J Rare Dis. 2024; 19: 16. Published online 2024 Jan 18. doi: 10.1186/s13023-024-03028-w

Correction in:: Orphanet J Rare Dis. 2024; 19: 139.

PMCID:: PMC10797794

Abstract Article PDF–870K

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