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1.
Int J Colorectal Dis ; 2022 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-35499710

RESUMO

PURPOSE: Molecular diagnostics of colorectal cancer (CRC) can be used as an auxiliary approach for patients recommended for colonoscopy, providing more CRC supplemental diagnosis options. This study investigated whether combined detection of KRAS/BRAF/APC mutation and SDC2/SFRP2 methylation can serve as auxiliary diagnostics in clinical management. METHODS: KRAS/BRAF/APC mutation and SDC2/SFRP2 methylation in stool samples from healthy donors, patients with CRC, advanced adenoma (AA), non-advanced adenoma (NAA), or other gastroenterological diseases were evaluated using quantitative PCR (qPCR) or methylation-specific quantitative PCR (MSP). Test accuracy was determined by evaluating the tests' sensitivity, specificity, positive/negative predictive value (PPV/NPV), or positive/negative likelihood ratio (PLR/NLR). RESULTS: The combined fecal KRAS/BRAF/APC mutation and SFRP2/SDC2 methylation detection test achieved a sensitivity of 88.57% with a PPV of 93.64% and a PLR of 7.10 for CRC patients. In comparison, the corresponding parameters for multigene mutation were 46.67%, 92.59%, and 36.26 and 83.81%, 93.94%, and 7.47, for DNA methylation, separately. The sensitivity of the combined test, gene mutation test, and DNA methylation test approach was 75%, 28.26%, and 72.83%. Furthermore, the specificity of this approach in the NAA group was 79.49%. Meanwhile, the overall diagnostic specificity for the combined test in NAA, healthy control, and interference groups was 88.42%. In addition, the sensitivity of the combined detection method increased with the disease stage in CRC patients and elevated along with the lesion size (≥ 1 cm) in AA patients. CONCLUSION: Combined detection of fecal KRAS/BRAF/APC mutation and SFRP2/SDC2 methylation has potential application value for the auxiliary diagnosis of CRC and AA.

2.
PeerJ ; 10: e13238, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35497192

RESUMO

Research on the biological role of exosomes is rapidly developing, and recent evidence suggests that exosomal effects involve ferroptosis. Exosomes derived from different tissues inhibit ferroptosis, which increases tumour cell chemoresistance. Therefore, exosome-mediated regulation of ferroptosis may be leveraged to design anticancer drugs. This review discusses three pathways of exosome-mediated inhibition of ferroptosis: (1) the Fenton reaction; (2) the ferroptosis defence system, including the Xc-GSH-GPX4 axis and the FSP1/CoQ10/NAD(P)H axis; and (3) lipid peroxidation. We also summarize three recent approaches for combining exosomes and ferroptosis in oncology therapy: (1) promoting exosome-inhibited ferroptosis to enhance chemotherapy; (2) encapsulating exosomes with ferroptosis inducers to inhibit cancers; and (3) developing therapies that combine exosomal inhibitors and ferroptosis inducers. This review will contribute toward establishing effective cancer therapies.

3.
Anal Chem ; 2022 May 12.
Artigo em Inglês | MEDLINE | ID: mdl-35549212

RESUMO

In this study, we measure the absolute isotope ratios of ytterbium (Yb) by multi-collector inductively coupled plasma mass spectrometry (MC-ICP-MS) using an optimized regression model for mass bias correction. A rhenium (Re) reference material (NIST SRM 3143), which has been characterized previously, is selected as a primary calibrator to calibrate the absolute Yb isotope ratios for three Yb materials (GSB, Alfa Yb, and GBW). The three-isotope plot for all collected data indicates that the results of Yb isotope ratios obtained are not affected by any polyatomic interferences and the mass-independent isotopic fractionation. Furthermore, the recalibrated Hf historical isotope ratios by using the absolute Yb isotopic composition obtained in this study for the isobaric interference correction on Hf isotopes are in agreement with the original historical values. This work has further demonstrated the applicability of the regression model for the calibrated measurements of absolute isotope ratios using MC-ICP-MS. The three mono-elemental Yb standard solutions are thus proposed as the reference materials for Yb isotope ratio measurements in environmental and geoscience applications.

4.
J Transl Med ; 20(1): 198, 2022 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-35509101

RESUMO

BACKGROUND: Serine/arginine-rich splicing factor 9 (SRSF9) is a classical RNA-binding protein that is essential for regulating gene expression programs through its interaction with target RNA. Whether SRSF9 plays an essential role in colorectal cancer (CRC) progression and can serve as a therapeutic target is largely unknown. Here, we highlight new findings on the role of SRSF9 in CRC progression and elucidate the underlying mechanism. METHODS: CRC cell lines and clinical tissue samples were used. qRT-PCR, Western blotting, immunohistochemistry (IHC), gain- and loss-of-function assays, animal xenograft model studies, bioinformatic analysis, methylated single-stranded RNA affinity assays, gene-specific m6A quantitative qRT-PCR, dual-luciferase reporter assays and RNA stability assays were performed in this study. RESULTS: The expression level of SRSF9 was higher in CRC cell lines than that in an immortal human intestinal epithelial cell line. Overexpression of SRSF9 was positively associated with lymph node metastasis and Dukes stage. Functionally, SRSF9 promoted cell proliferation, migration and invasion in vitro and xenograft growth. The results of bioinformatic analysis indicated that DSN1 was the downstream target of SRSF9. In CRC cells and clinical tissue samples, the expression of SRSF9 was positively associated with the expression of DSN1. Knockdown of DSN1 partially inhibited the SRSF9-induced phenotype in CRC cells. Mechanistically, we further found that SRSF9 is an m6A-binding protein and that m6A modifications were enriched in DSN1 mRNA in CRC cells. Two m6A modification sites (chr20:36773619-36773620 and chr20:36773645-chr20:36773646) in the SRSF9-binding region (chr20:36773597-36773736) of DSN1 mRNA were identified. SRSF9 binds to DSN1 in an m6A motif- and dose-dependent manner. SRSF9 modulates the expression of DSN1 in CRC cells. Such expression regulation was largely impaired upon methyltransferase METTL3 knockdown. Moreover, knockdown of SRSF9 accelerated DSN1 mRNA turnover, while overexpression of SRSF9 stabilized DSN1 mRNA in CRC cells. Such stabilizing was also weakened upon METTL3 knockdown. CONCLUSION: Overexpression of SRSF9 was associated with lymph node metastasis and Dukes stage in CRC. Knockdown of DSN1 eliminated the effects by SRSF9 overexpression in CRC. Our results indicated that SRSF9 functions as an m6A-binding protein (termed "reader") by enhancing the stability of DSN1 mRNA in m6A-related manner. Our study is the first to report that SRSF9-mediated m6A recognition has a crucial role in CRC progression, and highlights SRSF9 as a potential therapeutic target for CRC management.


Assuntos
Neoplasias Colorretais , Metiltransferases , Animais , Linhagem Celular Tumoral , Proliferação de Células/genética , Proteínas Cromossômicas não Histona/genética , Proteínas Cromossômicas não Histona/metabolismo , Neoplasias Colorretais/patologia , Regulação Neoplásica da Expressão Gênica , Humanos , Metástase Linfática , Metiltransferases/genética , Metiltransferases/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Fatores de Processamento de Serina-Arginina
5.
Commun Biol ; 5(1): 454, 2022 May 12.
Artigo em Inglês | MEDLINE | ID: mdl-35551233

RESUMO

Bacterial polyynes are highly active natural products with a broad spectrum of antimicrobial activities. However, their detailed mechanism of action remains unclear. By integrating comparative genomics, transcriptomics, functional genetics, and metabolomics analysis, we identified a unique polyyne resistance gene, masL (encoding acetyl-CoA acetyltransferase), in the biosynthesis gene cluster of antifungal polyynes (massilin A 1, massilin B 2, collimonin C 3, and collimonin D 4) of Massilia sp. YMA4. Crystallographic analysis indicated that bacterial polyynes serve as covalent inhibitors of acetyl-CoA acetyltransferase. Moreover, we confirmed that the bacterial polyynes disrupted cell membrane integrity and inhibited the cell viability of Candida albicans by targeting ERG10, the homolog of MasL. Thus, this study demonstrated that acetyl-CoA acetyltransferase is a potential target for developing antifungal agents.

6.
Front Med (Lausanne) ; 9: 820281, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35572991

RESUMO

Background: Albumin to fibrinogen ratio (AFR) is a demonstrated predictor of mortality in various diseases. The aim of this study was to evaluate the prognostic value of AFR to predict mortality in peritoneal dialysis (PD) patients. Methods: We retrospectively analyzed 212 incident PD patients from January 2010 to December 2017 and followed them until December 2019. We used receiver operating curve (ROC) analysis to determine the optimal cut-off point for AFR at baseline to predict overall and cardiovascular mortality during the follow-up period. Kaplan-Meier curve and Cox regression analysis were applied to evaluate the association between AFR and all-cause and cardiovascular mortality. Results: The optimal threshold for AFR to predict mortality was 8.48. A low AFR was strongly correlated with worse all-cause and cardiovascular mortality in PD patients. Multivariate analysis revealed that elevated AFR was an independent marker predicting reduced all-cause and cardiovascular mortality (HR 2.41, 95% CI 1.11-5.22, P = 0.026; and HR 2.18, 95% CI 1.21-3.95, P = 0.010, respectively). Conclusions: Patients with a high AFR had reduced all-cause and cardiovascular mortality. AFR is a potential prognostic biomarker in PD patients.

7.
Am J Transl Res ; 14(4): 2231-2243, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35559417

RESUMO

OBJECTIVES: Paraneoplastic antigen Ma family (PNMA) is dysregulated in the pathological development of various cancers. However, the actions of PNMA member 5 (PNMA5) in cancers are still unknown. The aim of this study was to explore the biological actions of PNMA5 and its implication in epithelial-mesenchymal transition (EMT) during the progression of colorectal cancer (CRC). METHODS: Immunohistochemical staining, western blot and qPCR were used to explore PNMA5 expression in colorectal cancer tissues and cells. In addition, western blot, MTT assays, Colony formation assay, wound-healing, and transwell cell invasion assays were used to investigate the effects of PNMA5 on EMT in colorectal cancer. The lung metastasis models and xenografts in nude mice were established to explore the roles of PNMA5 in vivo. RESULTS: It was found that the expression level of PNMA5 in colorectal cancer tissues was significantly up regulated compared to that in the adjacent tissues. The overall survival rates of patients with a higher PNMA5 expression were markedly decreased. In addition, knockdown of PNMA5 expression decreased the proliferation, invasion and migration of both HCT-15 and HCT-116 cells. PNMA5 expression was found to be positively associated with the expression of C-myc, CyclinD1, Ki67, N-cadherin, zinc finger E-box binding homeobox 1 and vimentin, and negatively associated with E-cadherin. It was also found that PNMA5 knockdown attenuated TGF-ß-induced EMT in colorectal cancer cells. Finally, it was demonstrated that PNMA5 accelerated colorectal cancer cell proliferation, invasion and migration in vivo. CONCLUSION: The results revealed that PNMA5 increased cellular proliferation, invasion and migration in colorectal cancer. PNMA5 plays a key role in promoting CRC carcinogenesis and progression for patients with CRC.

8.
Biosens Bioelectron ; 210: 114305, 2022 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-35523005

RESUMO

Circulating tumor cell (CTC) detection as a burgeoning detection strategy can identify the tumor lesion in the early stage, and facilitates the understanding of tumorigenesis, tumor progression, metastasis, and drug-resistance. Herein, we present a novel strategy for in situ isolating and directly detecting CTCs from peripheral blood at single-cell resolution using black TiO2 (B-TiO2)-based Surface-Enhanced Raman Scattering (SERS) bio-probe on a microfilter. CTCs were isolated from blood by microfilter based on the size and deformation difference. The SERS bio-probe was composed of crystal-amorphous core-shell B-TiO2 nanoparticles (NPs), alizarin red (AR) as Raman reporter molecules, and a thin protective layer of NH2-PEG2000-COOH (PEG), which provided sufficient binding sites for target molecule of folic acid (FA). Demonstrated by three cell lines of MCF-7 (folate receptor (FR) positive), A549 and Raw264.7 (FR negative), SERS bio-probe of B-TiO2-AR-PEG-FA could distinguish FR positive CTCs from peripheral blood cells efficiently by targeting FR on CTC membranes and ruling out false positive interference of white blood cells (WBCs) with reliability and specificity. Benefiting by these advantages, this strategy enhanced the detection efficiency and veracity, which reduced the detection time within 1.5 h and make the LOD of detection reduced to 2 cells/mL. These features also facilitated successful CTC detection in several clinical cancer patient bloods which illustrates that the integration of microfluidic isolation and SERS detection may open new paths for liquid biopsy.

10.
J Mater Chem B ; 2022 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-35475474

RESUMO

Circulating tumor cells (CTCs) can be the seeds of tumor metastasis and are closely linked to cancer-related death. Fast and effective detection of CTCs is important for the early diagnosis of cancer and the evaluation of micrometastasis. However, the extreme rarity and heterogeneity of CTCs in peripheral blood make sensitive detection of CTCs a big challenge. In this paper, a TiO2-based surface-enhanced Raman scattering (SERS) bioprobe is reported for the first time with outstanding ultrasensitive specificity, excellent stability of the signal, and good biocompatibility for the detection of CTCs. The TiO2 NPs were encoded with alizarin red (AR) and functionalized with reduced bovine serum protein (rBSA) and folic acid (FA). The limit of detection (LOD) for 4-mercaptobenzoic acid (4-MBA) and AR molecules adsorbed on the TiO2 SERS substrate is 5 × 10-7 M. The designed TiO2-based SERS bioprobe can be effectively utilized in detecting four diverse types of cancer cells in rabbit blood, which shows good sensitivity of the SERS detection technology. Finally, precise targeting of CTCs based on the SERS bioprobe with the function of fluorescence imaging is also confirmed by the fluorescence colouration test. This work offers a novel strategy for CTC detection and the development of non-noble metal semiconductor-based SERS platforms for tumor diagnosis.

11.
Diagn Pathol ; 17(1): 42, 2022 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-35488288

RESUMO

BACKGROUND: Extraskeletal myxoid chondrosarcomas (EMCs) are solid tumors that have been genetically and biologically characterized. Only a few studies have discussed the role of the KIT gene or CD117 expression in EMCs, identified by immunohistochemical (IHC) staining. Herein, we present a novel case of cellular EMC exhibiting an EWSR1-NR4A3 fusion, KIT exon 13 mutations and strong diffuse expression of CD117. CASE PRESENTATION: A 69-year-old man presented with a fist-sized tumor on his left shoulder. CT revealed a tumor in the left thoracic and dorsal muscle space. The tumor was completely resected. Histologically, the tumor cells had a nodular structure and infiltrated the peripheral fat and muscle tissues. The tumor cells were uniform in size with round nuclei, well-defined nucleoli and eosinophilic cytoplasm. Immunohistochemically, the tumor cells were positive for CD117, vimentin, CD56 and NSE and focally expressed desmin; the cells were negative for myogenin, S-100, SYN, INSM1, CD34, STAT6, INI-1, Brachyury, ERG, TLE1, AE1/AE3, WT-1, CD99 and SMA. NGS revealed an EWSR1-NR4A3 fusion and KIT exon 13 mutations. The patient had no further treatment after surgery, and no recurrence or metastasis occurred during the ~ 10 month follow-up period. CONCLUSIONS: Molecular detection is an indispensable technique for diagnosing cellular EMCs. The KIT mutations noted in this case report may offer fresh insights into EMCs treatment options.


Assuntos
Condrossarcoma , Neoplasias de Tecido Conjuntivo e de Tecidos Moles , Idoso , Condrossarcoma/diagnóstico , Condrossarcoma/genética , Fusão Gênica , Humanos , Masculino , Mutação , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/genética , Proteínas Repressoras/genética
12.
Front Endocrinol (Lausanne) ; 13: 861878, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35418946

RESUMO

Diabetes mellitus (DM) can affect bone metabolism and the bone microenvironment, resulting in impaired bone healing. The mechanisms include oxidative stress, inflammation, the production of advanced glycation end products (AGEs), etc. Improving bone healing in diabetic patients has important clinical significance in promoting fracture healing and improving bone integration. In this paper, we reviewed the methods of improving bone healing under diabetic conditions, including drug therapy, biochemical cues, hyperbaric oxygen, ultrasound, laser and pulsed electromagnetic fields, although most studies are in preclinical stages. Meanwhile, we also pointed out some shortcomings and challenges, hoping to provide a potential therapeutic strategy for accelerating bone healing in patients with diabetes.


Assuntos
Diabetes Mellitus , Diabetes Mellitus/terapia , Consolidação da Fratura , Produtos Finais de Glicação Avançada/metabolismo , Humanos , Estresse Oxidativo
13.
Artigo em Inglês | MEDLINE | ID: mdl-35428035

RESUMO

PURPOSE: Left atrial appendage (LAA) occlusion for atrial fibrillation (AF) is an invasive therapy that reduces stroke incidence and death. The impact of cardiac rehabilitation (CR) on patients with AF with LAA occlusion remains unknown. We aimed to evaluate the effects and safety of CR in patients with AF with LAA occlusion. METHODS: This 6-mo single-center randomized controlled trial compared an exercise-based CR program with a control group. Patients with AF who underwent LAA occlusion from December 2018 to December 2020 were randomized into two groups: exercise-based CR and usual care (control). All patients underwent echocardiography, cardiac computed tomography, scale survey, physical function, and exercise capacity at baseline and at 3 and 6 mo follow-up. RESULTS: There were 33 and 30 patients in the control and CR groups, respectively, in the final analysis. After the study period, the 6-min walk test distance, handgrip and leg strength, and left ventricular ejection fraction increased significantly in the CR group compared with baseline. Significant between-group differences were found in the mental and physical component summary scales, including all eight subscales, of the Short Form 36. The incidence of incomplete endothelialization in the CR group at 3 and 6 mo was significantly lower than that in the control group. CONCLUSIONS: Cardiac rehabilitation was shown to accelerate device endothelialization in patients with AF with LAA occlusion, while also improving the quality of life, exercise capacity, and physical function.

14.
Front Bioeng Biotechnol ; 10: 856398, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35402417

RESUMO

Mature vasculature is important for the survival of bioengineered tissue constructs, both in vivo and in vitro; however, the fabrication of fully vascularized tissue constructs remains a great challenge in tissue engineering. Indirect three-dimensional (3D) bioprinting refers to a 3D printing technique that can rapidly fabricate scaffolds with controllable internal pores, cavities, and channels through the use of sacrificial molds. It has attracted much attention in recent years owing to its ability to create complex vascular network-like channels through thick tissue constructs while maintaining endothelial cell activity. Biodegradable materials play a crucial role in tissue engineering. Scaffolds made of biodegradable materials act as temporary templates, interact with cells, integrate with native tissues, and affect the results of tissue remodeling. Biodegradable ink selection, especially the choice of scaffold and sacrificial materials in indirect 3D bioprinting, has been the focus of several recent studies. The major objective of this review is to summarize the basic characteristics of biodegradable materials commonly used in indirect 3D bioprinting for vascularization, and to address recent advances in applying this technique to the vascularization of different tissues. Furthermore, the review describes how indirect 3D bioprinting creates blood vessels and vascularized tissue constructs by introducing the methodology and biodegradable ink selection. With the continuous improvement of biodegradable materials in the future, indirect 3D bioprinting will make further contributions to the development of this field.

15.
Ann Med ; 54(1): 1212-1220, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35481432

RESUMO

Purpose: Oncology studies employing digital dissection methodologies have provided some insight on the biological features of tumor microenvironment of Triple-negative breast cancer (TNBC), but molecular diagnostics rarely have therapeutic impact. We aimed to identify a novel prognostic biomarker to investigate immune characteristics of TNBC using transcriptomic features.Patients and Methods: We extracted whole transcriptome from breast cancer tissue of 30 TNBC patients and then used bioinformatics approaches to characterize the different immune cell contents in tumor tissue and para-cancerous tissue. We extract 2 indicators to describe the major differences in immune infiltration in the microenvironment between tumor tissue and para-cancerous tissue. We then combined the 2 indicators that represent the levels of increased and decreased infiltration in each sample to obtain the Immune Infiltration Score (IIS). Then we compared the tumor-infiltrating immune cell contents and immune infiltrating status in TNBC samples with CIBERSORT and ESTIMATE score to validate the IIS. Finally, 132 TNBC patients from the Cancer Genome Atlas program (TCGA) dataset was used to validate the predictive power of IIS.Results: 4 types of upregulated and 4 types of downregulated immune cells were identified in the tumor tissue samples of the TNBC patients. Then we developed a novel biomarker, IIS. Results showed that IIS score can clearly separate cancer and para-cancerous tissue. Using the same cutoff value of 0 in the TNBC-TCGA cohort, we show that those patients with a higher IIS had significantly higher PD-L1 expression and shorter progression-free survival time than those with a lower IIS value, indicating IIS score can be generalized to other TNBC datasets.Conclusion: we explored the immune infiltration landscape in 30 TNBC patients and provided IIS as a novel and reliable biomarker to evaluate the progression-free survival and prognosis of the TNBC patients.


Assuntos
Neoplasias de Mama Triplo Negativas , Biomarcadores , Estudos de Coortes , Humanos , Prognóstico , Neoplasias de Mama Triplo Negativas/diagnóstico , Neoplasias de Mama Triplo Negativas/genética , Microambiente Tumoral
17.
ACS Appl Mater Interfaces ; 14(18): 20896-20906, 2022 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-35481359

RESUMO

Carbon materials with well-dispersed SnOx particles exhibit excellent lithium-storage performance. However, the volume change of SnOx and the weak interaction between SnOx and carbon induce an unsteady SnOx-C interface during the lithiation/delithiation process. This phenomenon results in enhanced charge transfer resistance and reduced electrical contact of active materials, which leads to low reversibility of tin oxidation, restricted capacity, sluggish kinetics, structural deterioration, and rapid capacity decay. Herein, tin oxide/carbon composites with a metaphosphate-bridged interface are synthesized to construct a robust interfacial contact between tin oxides and carbon. The metaphosphate group functions as a bridge between SnOx and carbon and results in excellent electrochemical stability during the charge/discharge process, which is favorable for electrode structural integrity. The formation of the metaphosphate-bridged interface provides a steady transport channel for e-/Li+ and thus improves the reversibility of the conversion reaction. The enhanced charge transfer and interaction can also boost the charge transfer between SnOx and carbon, which leads to higher SnOx utilization. Thus, the prepared P-SnOx/C anode exhibits enhanced lithium-storage performance in terms of specific capacity, cycling stability, and rate performance.

19.
Nat Commun ; 13(1): 2057, 2022 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-35440108

RESUMO

The AKT kinases have emerged as promising therapeutic targets in oncology and both allosteric and ATP-competitive AKT inhibitors have entered clinical investigation. However, long-term efficacy of such inhibitors will likely be challenged by the development of resistance. We have established prostate cancer models of acquired resistance to the allosteric inhibitor MK-2206 or the ATP-competitive inhibitor ipatasertib following prolonged exposure. While alterations in AKT are associated with acquired resistance to MK-2206, ipatasertib resistance is driven by rewired compensatory activity of parallel signaling pathways. Importantly, MK-2206 resistance can be overcome by treatment with ipatasertib, while ipatasertib resistance can be reversed by co-treatment with inhibitors of pathways including PIM signaling. These findings demonstrate that distinct resistance mechanisms arise to the two classes of AKT inhibitors and that combination approaches may reverse resistance to ATP-competitive inhibition.


Assuntos
Antineoplásicos , Proteínas Proto-Oncogênicas c-akt , Trifosfato de Adenosina/farmacologia , Inibidores da Angiogênese/farmacologia , Antineoplásicos/farmacologia , Humanos , Masculino , Inibidores de Proteínas Quinases/farmacologia , Proteínas Proto-Oncogênicas c-akt/metabolismo , Transdução de Sinais
20.
Front Aging Neurosci ; 14: 829573, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35462699

RESUMO

Neuronal ceroid lipofuscinosis (NCL) is composed of a group of inherited neurodegenerative diseases, with the hallmark of lipofuscin deposit (a mixture of lipids and proteins with metal materials) inside the lysosomal lumen, which typically emits auto-fluorescence. Adult-onset NCL (ANCL) has been reported to be associated with a mutation in the DNAJC5 gene, including L115R, L116Δ, and the recently identified C124_C133dup mutation. In this study, we reported a novel C128Y mutation in a young Chinese female with ANCL, and this novel mutation caused abnormal palmitoylation and triggered lipofuscin deposits.

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