Can Proteomics Play a Significant Role in the Identification of Biomarkers for Alpha1-Antitrypsin Deficiency? DOI Open Access
Maria Antonietta Grignano, Maura D’Amato, Marilena Gregorini

и другие.

International Journal of Molecular Sciences, Год журнала: 2025, Номер 26(11), С. 5085 - 5085

Опубликована: Май 26, 2025

Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder that can manifest in broad spectrum of clinical symptoms, ranging from asymptomatic cases to severe, progressive systemic diseases, primarily affecting the lungs and liver. Despite its prevalence, AATD often perceived as rare condition, which lead lack awareness among primary care physicians even some respiratory specialists. This misconception may result missed opportunities for diagnosis, particularly mild or patients. Consequently, it vital healthcare providers familiarize themselves with various presentations, diagnostic techniques, management strategies AATD. review explores current understanding AATD, emphasizing valuable role liquid chromatography-mass spectrometry identifying biomarkers could enhance early diagnosis help predict disease outcomes. As knowledge about complexities continues grow, begin view not fatal pathology, but treatable inherited condition potential improved management.

Язык: Английский

Specific and efficient RNA A-to-I editing through cleavage of an ADAR inhibitor DOI
Guangye Li, Guo Chen, Guo-Hua Yuan

и другие.

Nature Biotechnology, Год журнала: 2025, Номер unknown

Опубликована: Март 26, 2025

Язык: Английский

Процитировано

2

Epitranscriptomics in atherosclerosis: Unraveling RNA modifications, editing and splicing and their implications in vascular disease DOI Creative Commons
Victoria Stopa, Dimitra Dafou, Korina Karagianni

и другие.

Vascular Pharmacology, Год журнала: 2025, Номер 159, С. 107496 - 107496

Опубликована: Апрель 14, 2025

Язык: Английский

Процитировано

1

Harnessing RNA base editing for diverse applications in RNA biology and RNA therapeutics DOI Creative Commons
Hui Luo, Jing Yao, Rui Zhang

и другие.

Advanced Biotechnology, Год журнала: 2025, Номер 3(2)

Опубликована: Апрель 8, 2025

Abstract Recent advancements in molecular engineering have established RNA-based technologies as powerful tools for both fundamental research and translational applications. Among the various developed, RNA base editing has recently emerged a groundbreaking advancement. It primarily involves conversion of adenosine (A) to inosine (I) cytidine (C) uridine (U), which are mediated by ADAR APOBEC enzymes, respectively. been applied biological therapeutic contexts. enables site-directed within target transcripts, offering reversible, dose-dependent effects, contrast permanent or heritable changes associated with DNA editing. Additionally, editing-based profiling RNA-binding protein (RBP) binding sites facilitates transcriptome-wide mapping RBP-RNA interactions specific tissues at single-cell level. Furthermore, sensors utilized express effector proteins response species. As continue evolve, we anticipate that they will significantly drive therapeutics, synthetic biology, research.

Язык: Английский

Процитировано

0

Characterization of RNA editing gene APOBEC3C as a candidate tumor suppressor in prostate cancer DOI

Liyang Wang,

Ji Shi, Mofei Wang

и другие.

Research Square (Research Square), Год журнала: 2025, Номер unknown

Опубликована: Апрель 10, 2025

Abstract The human genome encodes 19 adenosine and cytidine deaminase genes, classified as A-to-I versus C-to-U editors. editors have been widely identified a promising therapeutic target in various cancers. Conversely, the investigation into is relatively limited. This study evaluated RNA-editing genes prostate cancer (PCa). Notably, APOBEC3 are clustered terms of their chromosomal locations, transcriptional changes exhibit significant positive correlations both primary PCa castration-resistant (CRPC). One member this family, APOBEC3C, demonstrated here an androgen receptor (AR)-repressed gene. Consistently, loci epigenetically inhibited progression, with APOBEC3C level lower PSA-high patients. APOBEC3C-low cohorts increased resistance to Abiraterone Enzalutamide. Clinicopathological profiling further confirmed downregulation along progression advanced phases (grade IV/V, stage III-IV, pathological T3-4), underscoring its prognostic value. Additionally, expression inversely correlates relapse mortality, low levels linked unfavorable survival. integrated analyses sole gene significance differential prognosis, had best diagnostic performance among genes. Our efforts provide foundation for RNA research diagnosis therapy, grant candidate tumor suppressor.

Язык: Английский

Процитировано

0

Alpha-1 antitrypsin deficiency-associated liver disease: From understudied disorder to the poster child of genetic medicine DOI Creative Commons
Malin Fromme,

Fabienne Klebingat,

Paul Ellis

и другие.

Hepatology Communications, Год журнала: 2025, Номер 9(5)

Опубликована: Апрель 14, 2025

Alpha-1 antitrypsin deficiency (AATD) constitutes an inborn disorder arising due to mutations in alpha-1 (AAT), a secreted protease inhibitor produced primarily hepatocytes. It leads diminished serum AAT levels, and this loss-of-function predisposes chronic obstructive pulmonary disease lung emphysema. The characteristic Pi*Z mutation results hepatic Z-AAT accumulation. In its homozygous form (Pi*ZZ genotype), it is responsible for the majority of severe AATD cases can cause both pediatric adult liver disease, while heterozygous (Pi*MZ) considered modifier that becomes apparent presence other comorbidities or risk factors. current review, we collate conditions associated with AATD, introduce typical variants, discuss our understanding pathogenesis. We present cross-sectional longitudinal data informing about natural history noninvasive tools be used stratification as well basis monitoring. Given AATD-associated highly heterogeneous, factors affecting progression. While treated by weekly intravenous administration purified AAT, recombinant modified oral inhibitors are currently clinical trials. Among candidates, small interfering RNA fazirsiran efficiently suppresses production phase 3 trial, several genetic approaches, such editing, at earlier stages. summary, represents systemic increasingly seen hepatologic routine requiring thorough interdisciplinary care, since ongoing trials often address only one organs affects.

Язык: Английский

Процитировано

0

Characterization of RNA editing gene APOBEC3C as a candidate tumor suppressor in prostate cancer DOI Creative Commons

Liyang Wang,

Ji Shi, Mofei Wang

и другие.

Scientific Reports, Год журнала: 2025, Номер 15(1)

Опубликована: Май 22, 2025

The human genome encodes 19 adenosine and cytidine deaminase genes, classified as A-to-I versus C-to-U editors. editors have been widely identified a promising therapeutic target in various cancers. Conversely, the investigation into is relatively limited. This study evaluated RNA-editing genes prostate cancer (PCa). Notably, APOBEC3 are clustered terms of their chromosomal locations, transcriptional changes exhibit significant positive correlations both primary PCa castration-resistant (CRPC). One member this family, APOBEC3C, demonstrated here an androgen receptor (AR)-repressed gene. Consistently, loci epigenetically inhibited progression, with APOBEC3C level lower PSA-high patients. APOBEC3C-low cohorts increased resistance to Abiraterone Enzalutamide. Clinicopathological profiling further confirmed downregulation along progression advanced phases (grade IV/V, stage III-IV, pathological T3-4), underscoring its prognostic value. Additionally, expression inversely correlates relapse mortality, low levels linked unfavorable survival. integrated analyses sole gene significance differential prognosis, had best diagnostic performance among genes. Our efforts provide foundation for RNA research diagnosis therapy, grant candidate tumor suppressor.

Язык: Английский

Процитировано

0

Can Proteomics Play a Significant Role in the Identification of Biomarkers for Alpha1-Antitrypsin Deficiency? DOI Open Access
Maria Antonietta Grignano, Maura D’Amato, Marilena Gregorini

и другие.

International Journal of Molecular Sciences, Год журнала: 2025, Номер 26(11), С. 5085 - 5085

Опубликована: Май 26, 2025

Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder that can manifest in broad spectrum of clinical symptoms, ranging from asymptomatic cases to severe, progressive systemic diseases, primarily affecting the lungs and liver. Despite its prevalence, AATD often perceived as rare condition, which lead lack awareness among primary care physicians even some respiratory specialists. This misconception may result missed opportunities for diagnosis, particularly mild or patients. Consequently, it vital healthcare providers familiarize themselves with various presentations, diagnostic techniques, management strategies AATD. review explores current understanding AATD, emphasizing valuable role liquid chromatography-mass spectrometry identifying biomarkers could enhance early diagnosis help predict disease outcomes. As knowledge about complexities continues grow, begin view not fatal pathology, but treatable inherited condition potential improved management.

Язык: Английский

Процитировано

0