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76 Results Found

  • Article
  • Open Access
10 Citations
3,190 Views
13 Pages

Premature endothelial senescence decreases the atheroprotective capacity of the arterial endothelium. Apolipoprotein C3 (ApoC3) delays the catabolism of triglyceride-rich particles and plays a critical role in atherosclerosis progression. FBXO31 is r...

  • Article
  • Open Access
4 Citations
4,893 Views
16 Pages

26 September 2024

Epithelial-to-mesenchymal transition (EMT) affects the invasion and migration of cancer cells. Here, we show that FBXO11 recognizes and promotes ubiquitin-mediated degradation of ZEB1. There is a strong association between FBXO11 and ZEB1 in non-smal...

  • Article
  • Open Access
1,053 Views
15 Pages

FBXO10 Drives Hepatocellular Carcinoma Proliferation via K63-Linked Ubiquitination and Stabilization of FRMPD1

  • Wuguang Liu,
  • Bin Xu,
  • Kashif Kifayat,
  • Yuhong Xie,
  • Xiaolong Liu,
  • Chengyong Dong and
  • Liming Wang

Aberrant ubiquitination drives hepatocellular carcinoma (HCC) progression, yet the role of FBXO10—a key F-box E3 ubiquitin ligase component—remains uncharacterized. Through bioinformatics analyses and functional validation, we establish F...

  • Article
  • Open Access
1 Citations
2,881 Views
20 Pages

Promotive Effect of FBXO32 on the Odontoblastic Differentiation of Human Dental Pulp Stem Cells

  • Ke Xu,
  • Qin Liu,
  • Wushuang Huang,
  • Yanhao Chu,
  • Wenguo Fan,
  • Jiawei Liu,
  • Yifan He and
  • Fang Huang

Odontoblastic differentiation of human dental pulp stem cells (hDPSCs) is crucial for the intricate formation and repair processes in dental pulp. Until now, the literature is not able to demonstrate the role of ubiquitination in the odontoblastic di...

  • Article
  • Open Access
16 Citations
4,101 Views
18 Pages

E3 Ubiquitin Ligase FBXO3 Drives Neuroinflammation to Aggravate Cerebral Ischemia/Reperfusion Injury

  • Yu Gao,
  • Xinyu Xiao,
  • Jing Luo,
  • Jianwei Wang,
  • Qiling Peng,
  • Jing Zhao,
  • Ning Jiang and
  • Yong Zhao

7 November 2022

Ischemic stroke, one of the most universal causes of human mortality and morbidity, is pathologically characterized by inflammatory cascade, especially during the progression of ischemia/reperfusion (I/R) injury. F-Box Protein 3 (FBXO3), a substrate-...

  • Review
  • Open Access
10 Citations
3,832 Views
19 Pages

25 April 2022

Fbxo4, also known as Fbx4, belongs to the F-box protein family with a conserved F-box domain. Fbxo4 can form a complex with S-phase kinase-associated protein 1 and Cullin1 to perform its biological functions. Several proteins are identified as Fbxo4...

  • Article
  • Open Access
23 Citations
4,268 Views
19 Pages

Loss of FBXO9 Enhances Proteasome Activity and Promotes Aggressiveness in Acute Myeloid Leukemia

  • R. Willow Hynes-Smith,
  • Samantha A. Swenson,
  • Heather Vahle,
  • Karli J. Wittorf,
  • Mika Caplan,
  • Catalina Amador,
  • R. Katherine Hyde and
  • Shannon M. Buckley

3 November 2019

The hematopoietic system is maintained throughout life by stem cells that are capable of differentiating into all hematopoietic lineages. An intimate balance between self-renewal, differentiation, and quiescence is required to maintain hematopoiesis...

  • Article
  • Open Access
35 Citations
7,334 Views
11 Pages

F-Box Protein FBXO22 Mediates Polyubiquitination and Degradation of CD147 to Reverse Cisplatin Resistance of Tumor Cells

  • Bo Wu,
  • Zhen-Yu Liu,
  • Jian Cui,
  • Xiang-Min Yang,
  • Lin Jing,
  • Yang Zhou,
  • Zhi-Nan Chen and
  • Jian-Li Jiang

Drug resistance remains a major clinical obstacle to successful treatment of cancer. As posttranslational modification is becoming widely recognized to affect the function of oncoproteins, targeting specific posttranslational protein modification pro...

  • Article
  • Open Access
4 Citations
2,802 Views
11 Pages

Identification of F-Box/SPRY Domain-Containing Protein 1 (FBXO45) as a Prognostic Biomarker for TMPRSS2–ERG-Positive Primary Prostate Cancers

  • Marthe von Danwitz,
  • Niklas Klümper,
  • Marit Bernhardt,
  • Alexander Cox,
  • Philipp Krausewitz,
  • Abdullah Alajati,
  • Glen Kristiansen,
  • Manuel Ritter,
  • Jörg Ellinger and
  • Johannes Stein

21 March 2023

Background: F-box/SPRY domain-containing protein 1 (FBXO45) plays a crucial role in the regulation of apoptosis via the ubiquitylation and degradation of specific targets. Recent studies indicate the prognostic potential of FBXO45 in several cancers....

  • Article
  • Open Access
7 Citations
2,290 Views
15 Pages

Downregulation of Splicing Factor PTBP1 Curtails FBXO5 Expression to Promote Cellular Senescence in Lung Adenocarcinoma

  • Haoyu Li,
  • Xiaoxiao Sun,
  • Yuanyuan Lv,
  • Gang Wei,
  • Ting Ni,
  • Wenxin Qin,
  • Haojie Jin and
  • Qi Jia

Polypyrimidine tract-binding protein 1 (PTBP1) plays an essential role in splicing and post-transcriptional regulation. Moreover, PTBP1 has been implicated as a causal factor in tumorigenesis. However, the involvement of PTBP1 in cellular senescence,...

  • Article
  • Open Access
1,073 Views
14 Pages

FBXO22 Suppresses Oxidative Stress-Induced ASK1 Activation and Cell Death via Ubiquitination-Dependent Degradation of TRIM48

  • Naoki Kashiwabara,
  • Keita Nagaoka,
  • Kenshin Nakajima,
  • Hiroki Tsukamoto,
  • Yoshihisa Tomioka,
  • Isao Naguro,
  • Hidenori Ichijo,
  • Takuya Noguchi,
  • Yusuke Hirata and
  • Atsushi Matsuzawa

27 September 2025

TRIM48 is a human-specific tripartite motif (TRIM) family protein with E3 ubiquitin ligase activity that plays a significant role in the oxidative stress response and tumor suppression. However, the mechanisms regulating TRIM48 expression remain unkn...

  • Article
  • Open Access
11 Citations
3,276 Views
21 Pages

Identification of a Prognostic Signature for Ovarian Cancer Based on Ubiquitin-Related Genes Suggesting a Potential Role for FBXO9

  • Xiaomei Luo,
  • Yingjie Wang,
  • Hao Zhang,
  • Guangquan Chen,
  • Jindan Sheng,
  • Xiu Tian,
  • Renhao Xue and
  • Yu Wang

30 November 2023

Background: Ovarian cancer (OV) is associated with high mortality and poses challenges in diagnosis and prognosis prediction. Ubiquitin-related genes (UbRGs) are involved in the initiation and progression of cancers, but have still not been utilized...

  • Article
  • Open Access
8 Citations
2,909 Views
16 Pages

Type 2 diabetes mellitus (T2DM), a chronic metabolic disease, is a public health concern that seriously endangers human health. Sleeve gastrectomy (SG) can relieve T2DM by improving glucose homeostasis and enhancing insulin sensitivity. However, its...

  • Case Report
  • Open Access
1,717 Views
8 Pages

3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay

  • Xin Bi,
  • Maureen S. Mulhern,
  • Erica Spiegel,
  • Ronald J. Wapner,
  • Brynn Levy,
  • Jennifer M. Bain and
  • Jun Liao

25 August 2023

Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes a patie...

  • Article
  • Open Access
6 Citations
2,515 Views
19 Pages

ERK3 Increases Snail Protein Stability by Inhibiting FBXO11-Mediated Snail Ubiquitination

  • Seon-Hee Kim,
  • Ki-Jun Ryu,
  • Keun-Seok Hong,
  • Hyemin Kim,
  • Hyeontak Han,
  • Minju Kim,
  • Taeyoung Kim,
  • Dong Woo Ok,
  • Jung Wook Yang and
  • Cheol Hwangbo
  • + 2 authors

24 December 2023

Snail is a key regulator of the epithelial-mesenchymal transition (EMT), the key step in the tumorigenesis and metastasis of tumors. Although induction of Snail transcription precedes the induction of EMT, the post-translational regulation of Snail i...

  • Article
  • Open Access
4 Citations
3,409 Views
18 Pages

TANK Binding Kinase 1 Promotes BACH1 Degradation through Both Phosphorylation-Dependent and -Independent Mechanisms without Relying on Heme and FBXO22

  • Liang Liu,
  • Mitsuyo Matsumoto,
  • Miki Watanabe-Matsui,
  • Tadashi Nakagawa,
  • Yuko Nagasawa,
  • Jingyao Pang,
  • Bert K. K. Callens,
  • Akihiko Muto,
  • Kyoko Ochiai and
  • Hirotaka Takekawa
  • + 6 authors

BTB and CNC homology 1 (BACH1) represses the expression of genes involved in the metabolism of iron, heme and reactive oxygen species. While BACH1 is rapidly degraded when it is bound to heme, it remains unclear how BACH1 degradation is regulated und...

  • Article
  • Open Access
15 Citations
2,683 Views
16 Pages

2 February 2023

The roles of F-box protein 43 (FBXO43) in carcinogenesis have been rarely revealed. The present study investigates the expression, function, and underlying mechanism of FBXO43 in hepatocellular carcinoma (HCC). Firstly, the expression and clinical si...

  • Article
  • Open Access
13 Citations
4,257 Views
11 Pages

An SCFFBXO28 E3 Ligase Protects Pancreatic β-Cells from Apoptosis

  • Kanaka Durga Devi Gorrepati,
  • Wei He,
  • Blaz Lupse,
  • Ting Yuan,
  • Kathrin Maedler and
  • Amin Ardestani

Loss of pancreatic β-cell function and/or mass is a central hallmark of all forms of diabetes but its molecular basis is incompletely understood. β-cell apoptosis contributes to the reduced β-cell mass in diabetes. Therefore, the identification of im...

  • Article
  • Open Access
8 Citations
4,173 Views
12 Pages

25 September 2022

Sarcopenia is the decline in skeletal muscle mass, strength, and functions, which decreases the quality of life in elderly people. This study investigated the suppressive effect of turmeric (Curcuma longa) extract (TE) on muscle atrophy in dexamethas...

  • Article
  • Open Access
17 Citations
5,940 Views
14 Pages

Supplementation with Fermented Rice Bran Attenuates Muscle Atrophy in a Diabetic Rat Model

  • Tubagus Bahtiar Rusbana,
  • Afifah Zahra Agista,
  • Wahyu Dwi Saputra,
  • Yusuke Ohsaki,
  • Kouichi Watanabe,
  • Ardy Ardiansyah,
  • Slamet Budijanto,
  • Takuya Koseki,
  • Hisashi Aso and
  • Michio Komai
  • + 1 author

12 August 2020

Fermented rice bran (FRB), a prospective supplement, has been proven to ameliorate certain medical conditions. However, its nutraceutical effect on muscle atrophy has never been investigated. The present study aimed to evaluate the effect of FRB on m...

  • Article
  • Open Access
5 Citations
3,005 Views
15 Pages

RAI14 Promotes Melanoma Progression by Regulating the FBXO32/c-MYC Pathway

  • Jie Xu,
  • Pengfei Shi,
  • Fanwei Xia,
  • Xuan Zhao,
  • Junfan Chen,
  • Rui Geng,
  • Hongjuan Cui and
  • Liqun Yang

10 October 2022

Melanoma originates from the malignant transformation of melanocytes. Compared with other skin cancers, melanoma has a higher fatality rate. The 5-year survival rate of patients with early-stage primary melanoma through surgical resection can reach m...

  • Article
  • Open Access
4 Citations
3,688 Views
23 Pages

The SKP1, CUL1, F-box protein (SCF) complex represents a family of 69 E3 ubiquitin ligases that poly-ubiquitinate protein substrates marking them for proteolytic degradation via the 26S proteasome. Established SCF complex targets include transcriptio...

  • Article
  • Open Access
28 Citations
5,458 Views
17 Pages

Epigenetic Analysis of Circulating Tumor DNA in Localized and Metastatic Prostate Cancer: Evaluation of Clinical Biomarker Potential

  • Marianne Trier Bjerre,
  • Maibritt Nørgaard,
  • Ole Halfdan Larsen,
  • Sarah Østrup Jensen,
  • Siri H. Strand,
  • Peter Østergren,
  • Mikkel Fode,
  • Jacob Fredsøe,
  • Benedicte Parm Ulhøi and
  • Martin Mørck Mortensen
  • + 3 authors

31 May 2020

Novel and minimally-invasive prostate cancer (PCa)-specific biomarkers are needed to improve diagnosis and risk stratification. Here, we investigated the biomarker potential in localized and de novo metastatic PCa (mPCa) of methylated circulating tum...

  • Article
  • Open Access
3 Citations
2,122 Views
16 Pages

Identification of Putative Serum Autoantibodies Associated with Post-Acute Sequelae of COVID-19 via Comprehensive Protein Array Analysis

  • Yasuyoshi Hatayama,
  • Kei Miyakawa,
  • Yayoi Kimura,
  • Kazuo Horikawa,
  • Kouichi Hirahata,
  • Hirokazu Kimura,
  • Hideaki Kato,
  • Atsushi Goto and
  • Akihide Ryo

19 February 2025

Post-acute sequelae of SARS-CoV-2 infection (PASC), commonly known as “Long COVID”, represents a significant clinical challenge characterized by persistent symptoms following acute COVID-19 infection. We conducted a comprehensive retrospe...

  • Review
  • Open Access
5 Citations
2,493 Views
21 Pages

Biomarkers of Skeletal Muscle Atrophy Based on Atrogenes Evaluation: A Systematic Review and Meta-Analysis Study

  • André Luiz Gouvêa de Souza,
  • Anna Luisa Rosa Alves,
  • Camila Guerra Martinez,
  • Júlia Costa de Sousa and
  • Eleonora Kurtenbach

Muscle atrophy leads to decreased muscle mass, weakness, inactivity, and increased mortality. E3 ubiquitin ligases, key regulators of protein degradation via the ubiquitin–proteasome system, play a critical role in atrophic mechanisms. This met...

  • Article
  • Open Access
17 Citations
3,958 Views
19 Pages

A Novel Signature of CCNF-Associated E3 Ligases Collaborate and Counter Each Other in Breast Cancer

  • Shu-Chun Chang,
  • Chin-Sheng Hung,
  • Bo-Xiang Zhang,
  • Tsung-Han Hsieh,
  • Wayne Hsu and
  • Jeak Ling Ding

8 June 2021

Breast cancer (BRCA) malignancy causes major fatalities amongst women worldwide. SCF (Skp1-cullin-F-box proteins) E3 ubiquitin ligases are the most well-known members of the ubiquitination–proteasome system (UPS), which promotes cancer initiation and...

  • Article
  • Open Access
10 Citations
3,576 Views
17 Pages

Human Papillomavirus 16-Transgenic Mice as a Model to Study Cancer-Associated Cachexia

  • Sara Peixoto da Silva,
  • Joana M. O. Santos,
  • Verónica F. Mestre,
  • Beatriz Medeiros-Fonseca,
  • Paula A. Oliveira,
  • Margarida M. S. M. Bastos,
  • Rui M. Gil da Costa and
  • Rui Medeiros

Cancer cachexia is a multifactorial syndrome characterized by general inflammation, weight loss and muscle wasting, partly mediated by ubiquitin ligases such as atrogin-1, encoded by Fbxo32. Cancers induced by high-risk human papillomavirus (HPV) inc...

  • Article
  • Open Access
10 Citations
4,291 Views
17 Pages

Foxo3 Knockdown Mediates Decline of Myod1 and Myog Reducing Myoblast Conversion to Myotubes

  • Benjamin Gellhaus,
  • Kai O. Böker,
  • Marlene Gsaenger,
  • Eyck Rodenwaldt,
  • Marc A. Hüser,
  • Arndt F. Schilling and
  • Dominik Saul

29 August 2023

Sarcopenia has a high prevalence among the aging population. Sarcopenia is of tremendous socioeconomic importance because it can lead to falls and hospitalization, subsequently increasing healthcare costs while limiting quality of life. In sarcopenic...

  • Article
  • Open Access
6 Citations
2,654 Views
16 Pages

Androgen-Responsive Oncogenic lncRNA RP11-1023L17.1 Enhances c-Myc Protein Stability in Prostate Cancer

  • Wenhua Huang,
  • Qin Chen,
  • Yali Lu,
  • Zhe Kong,
  • Xuechao Wan,
  • Yan Huang,
  • Minyan Qiu and
  • Yao Li

13 October 2022

Long noncoding RNAs (lncRNAs) have been found as novel participants in the pathophysiology of prostate cancer (PCa), which is predominantly regulated by androgen and its receptor. The biological function of androgen-responsive lncRNAs remains poorly...

  • Article
  • Open Access
1,973 Views
14 Pages

3 July 2024

Many ectotherms hibernate to increase their chances of survival during harsh winter conditions. The role of DNA methylation in regulating gene expression related to hibernation in ectotherms remains unclear. Here, we employed whole-genome bisulfite s...

  • Article
  • Open Access
7 Citations
3,490 Views
12 Pages

Daidzein Inhibits Muscle Atrophy by Suppressing Inflammatory Cytokine- and Muscle Atrophy-Related Gene Expression

  • Chihiro Munekawa,
  • Takuro Okamura,
  • Saori Majima,
  • Budau River,
  • Sayaka Kawai,
  • Ayaka Kobayashi,
  • Hanako Nakajima,
  • Nobuko Kitagawa,
  • Hiroshi Okada and
  • Takafumi Senmaru
  • + 4 authors

13 September 2024

Background: Sarcopenic obesity, which is associated with a poorer prognosis than that of sarcopenia alone, may be positively affected by soy isoflavones, known inhibitors of muscle atrophy. Herein, we hypothesize that these compounds may prevent sarc...

  • Article
  • Open Access
775 Views
17 Pages

23 September 2025

Muscle traits are critical determinants of meat quality and productivity in sheep, influenced by both breed and anatomical region. Hanzhong sheep, an indigenous Chinese breed, are prized for tender, low-odor meat; yet, the molecular mechanisms underl...

  • Article
  • Open Access
11 Citations
2,472 Views
12 Pages

Selection and Validation of Reference Genes for qRT-PCR Gene Expression Analysis in Kengyilia melanthera

  • Junming Zhao,
  • Jian Yang,
  • Xiaoyun Wang,
  • Yanli Xiong,
  • Yi Xiong,
  • Zhixiao Dong,
  • Xiong Lei,
  • Lijun Yan and
  • Xiao Ma

14 August 2022

Kengyilia is a newly established genus. Most species in this genus survive in hash environment, which might be an indicator of an acquirement of stress resistance genes and the potential for molecular breeding in Triticeae species. Quantitative real-...

  • Article
  • Open Access
28 Citations
7,340 Views
12 Pages

Well-Differentiated Papillary Mesothelioma of the Peritoneum Is Genetically Distinct from Malignant Mesothelioma

  • Raunak Shrestha,
  • Noushin Nabavi,
  • Stanislav Volik,
  • Shawn Anderson,
  • Anne Haegert,
  • Brian McConeghy,
  • Funda Sar,
  • Sonal Brahmbhatt,
  • Robert Bell and
  • Stephane Le Bihan
  • + 3 authors

13 June 2020

Well-differentiated papillary mesothelioma (WDPM) is an uncommon mesothelial proliferation that is most commonly encountered as an incidental finding in the peritoneal cavity. There is controversy in the literature about whether WDPM is a neoplasm or...

  • Article
  • Open Access
1 Citations
2,863 Views
19 Pages

Design and Synthesis of AMPK Activators and GDF15 Inducers

  • Meijian Zhang,
  • Andrea Bagán,
  • Donna Martínez,
  • Emma Barroso,
  • Xavier Palomer,
  • Santiago Vázquez,
  • Carmen Escolano and
  • Manuel Vázquez-Carrera

17 July 2023

Targeting growth differentiation factor 15 (GDF15) is a recent strategy for the treatment of obesity and type 2 diabetes mellitus (T2DM). Here, we designed, synthesized, and pharmacologically evaluated in vitro a novel series of AMPK activators to up...

  • Article
  • Open Access
5 Citations
5,299 Views
26 Pages

Biological Implications of a Stroke Therapy Based in Neuroglobin Hyaluronate Nanoparticles. Neuroprotective Role and Molecular Bases

  • María Ángeles Peinado,
  • David Ovelleiro,
  • María Luisa del Moral,
  • Raquel Hernández,
  • Esther Martínez-Lara,
  • Eva Siles,
  • José Rafael Pedrajas,
  • María Luisa García-Martín,
  • Carlos Caro and
  • Sebastián Peralta
  • + 3 authors

27 December 2021

Exogenous neuroprotective protein neuroglobin (Ngb) cannot cross the blood–brain barrier. To overcome this difficulty, we synthesized hyaluronate nanoparticles (NPs), able to deliver Ngb into the brain in an animal model of stroke (MCAO). These...

  • Communication
  • Open Access
1 Citations
3,911 Views
12 Pages

Genetic Study of Early Onset Parkinson’s Disease in Cyprus

  • Rana Abu Manneh,
  • Paraskevi P. Chairta,
  • Ellie Mitsi,
  • Maria A. Loizidou,
  • Andrea N. Georgiou,
  • Yiolanda P. Christou,
  • Marios Pantzaris,
  • Eleni Zamba-Papanicolaou and
  • Andreas Hadjisavvas

6 December 2022

Parkinson’s Disease (PD) is a multifactorial neurodegenerative disease characterized by motor and non-motor symptoms. The etiology of PD remains unclear. However, several studies have demonstrated the interplay of genetic, epigenetic, and envir...

  • Article
  • Open Access
7 Citations
2,886 Views
17 Pages

Dynamic Changes in the Global Transcriptome of Postnatal Skeletal Muscle in Different Sheep

  • Yue Ai,
  • Yaning Zhu,
  • Linli Wang,
  • Xiaosheng Zhang,
  • Jinlong Zhang,
  • Xianlei Long,
  • Qingyi Gu and
  • Hongbing Han

20 June 2023

Sheep growth performance, mainly skeletal muscle growth, provides direct economic benefits to the animal husbandry industry. However, the underlying genetic mechanisms of different breeds remain unclear. We found that the cross-sectional area (CSA) o...

  • Review
  • Open Access
261 Citations
24,388 Views
32 Pages

Parkinson’s disease (PD) is caused by progressive neurodegeneration of dopaminergic (DAergic) neurons with abnormal accumulation of α-synuclein in substantia nigra (SN). Studies have suggested the potential involvement of dopamine, iron,...

  • Article
  • Open Access
27 Citations
4,582 Views
17 Pages

Exercise Reduces the Resumption of Tumor Growth and Proteolytic Pathways in the Skeletal Muscle of Mice Following Chemotherapy

  • Edson Alves de Lima,
  • Alexandre Abilio de Souza Teixeira,
  • Luana Amorim Biondo,
  • Tiego Aparecido Diniz,
  • Loreana Sanches Silveira,
  • Dario Coletti,
  • Silvia Busquets Rius and
  • José Cesar Rosa Neto

20 November 2020

The pathogenesis of muscle atrophy plays a central role in cancer cachexia, and chemotherapy contributes to this condition. Therefore, the present study aimed to evaluate the effects of endurance exercise on time-dependent muscle atrophy caused by do...

  • Review
  • Open Access
114 Citations
18,195 Views
25 Pages

7 March 2022

Parkinson’s disease may be caused by a single pathogenic variant (monogenic) in 5–10% of cases, but investigation of these disorders provides valuable pathophysiological insights. In this review, we discuss each genetic form with a focus...

  • Article
  • Open Access
8 Citations
3,729 Views
10 Pages

Frequency of Parkinson’s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study

  • Veria Vacchiano,
  • Anna Bartoletti-Stella,
  • Giovanni Rizzo,
  • Patrizia Avoni,
  • Piero Parchi,
  • Fabrizio Salvi,
  • Rocco Liguori and
  • Sabina Capellari

22 July 2022

Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explor...

  • Article
  • Open Access
2 Citations
3,960 Views
15 Pages

7 January 2022

Several studies have analyzed gene expression profiles in the substantia nigra to better understand the pathological mechanisms causing Parkinson’s disease (PD). However, the concordance between the identified gene signatures in these individua...

  • Article
  • Open Access
2 Citations
2,854 Views
10 Pages

High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic

  • Kristyna Kolarikova,
  • Radek Vodicka,
  • Radek Vrtel,
  • Julia Stellmachova,
  • Martin Prochazka,
  • Katerina Mensikova,
  • Tereza Bartonikova,
  • Tomas Furst,
  • Petr Kanovsky and
  • Jan Geryk

14 January 2022

Parkinson’s disease and parkinsonism are relatively common neurodegenerative disorders. This study aimed to assess potential genetic risk factors of haplotypes in genes associated with parkinsonism in a population in which endemic parkinsonism...

  • Article
  • Open Access
14 Citations
5,499 Views
17 Pages

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

  • Ilaria Catusi,
  • Maria Garzo,
  • Anna Paola Capra,
  • Silvana Briuglia,
  • Chiara Baldo,
  • Maria Paola Canevini,
  • Rachele Cantone,
  • Flaviana Elia,
  • Francesca Forzano and
  • Ornella Galesi
  • + 7 authors

27 April 2021

To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 sugge...

  • Article
  • Open Access
6 Citations
4,203 Views
18 Pages

Exome-Wide Association Study Reveals Host Genetic Variants Likely Associated with the Severity of COVID-19 in Patients of European Ancestry

  • Priyanka Upadhyai,
  • Pooja U. Shenoy,
  • Bhavya Banjan,
  • Mohammed F. Albeshr,
  • Shahid Mahboob,
  • Irfan Manzoor and
  • Ranajit Das

24 August 2022

Host genetic variability plays a pivotal role in modulating COVID-19 clinical outcomes. Despite the functional relevance of protein-coding regions, rare variants located here are less likely to completely explain the considerable numbers of acutely a...

  • Article
  • Open Access
9 Citations
3,813 Views
16 Pages

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders

  • Robin-Tobias Jauss,
  • Sophia Schließke and
  • Rami Abou Jamra

7 December 2022

Routine diagnostics is biased towards genes and variants with satisfactory evidence, but rare disorders with only little confirmation of their pathogenicity might be missed. Many of these genes can, however, be considered relevant, although they may...

  • Article
  • Open Access
9 Citations
3,577 Views
12 Pages

Glyoxylic Acid, an α-Keto Acid Metabolite Derived from Glycine, Promotes Myogenesis in C2C12 Cells

  • Toshio Norikura,
  • Yutaro Sasaki,
  • Akiko Kojima-Yuasa and
  • Atsushi Kon

4 April 2023

α-Keto acids may help prevent malnutrition in patients with chronic kidney disease (CKD), who consume protein-restricted diets, because they serve as amino acid sources without producing nitrogenous waste compounds. However, the physiological r...

  • Article
  • Open Access
3 Citations
3,844 Views
22 Pages

26 January 2024

The Kirsten rat sarcoma viral oncogene homolog (KRAS)G12C mutation is prevalent in lung adenocarcinoma (LUAD), driving tumor progression and indicating a poor prognosis. While the FDA-approved AMG510 (Sotorasib) initially demonstrated efficacy in tre...

  • Article
  • Open Access
10 Citations
2,660 Views
16 Pages

28 August 2022

MicroRNAs (miRNAs) play an essential role in many biological processes. In this study, miRNAs in the skeletal muscle of normal and intrauterine growth retardation (IUGR) neonatal piglets were identified by sequencing, and canonical miRNAs were functi...

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