Article
Biochemistry & Molecular Biology
Isshin Shiiba, Keisuke Takeda, Shun Nagashima, Naoki Ito, Takeshi Tokuyama, Shun-Ichi Yamashita, Tomotake Kanki, Toru Komatsu, Yasuteru Urano, Yuuta Fujikawa, Ryoko Inatome, Shigeru Yanagi
Summary: MITOL regulates Parkin-mediated cell death by promoting ubiquitination of Parkin at lysine 220 residue, leading to its proteasomal degradation and controlling mitophagy. Deletion of MITOL results in accumulation of active phosphorylated Parkin in the ER, causing FKBP38 degradation and increased cell death.
Article
Geriatrics & Gerontology
Xiaojing Gu, Yanbing Hou, Yongping Chen, Ruwei Ou, Bei Cao, Qianqian Wei, Lingyu Zhang, Wei Song, Bi Zhao, Ying Wu, Chunyu Li, Huifang Shang
Summary: This study identified rare variants in E3 ubiquitin ligase genes that may be associated with early onset Parkinson's disease, highlighting the importance of the ubiquitin-proteasome system in the pathogenesis of PD from the genetic perspective. The findings also expanded the spectrum of susceptible genes for PD.
NEUROBIOLOGY OF AGING
(2022)
Article
Genetics & Heredity
James A. Conway, Grant Kinsman, Edgar R. Kramer
Summary: Parkinson's disease is a neurodegenerative disease with unclear molecular pathologies. Enhancing the clearance of alpha-synuclein, a proposed causative protein, is a central idea for PD research. NEDD4 ligases have been shown to influence the degradation of alpha-synuclein and may be potential therapeutic targets for PD. Understanding the expression and function of NEDD4 ligases in the brain is crucial for uncovering the mechanisms of PD.
Article
Biochemistry & Molecular Biology
Yasaman Pakdaman, Siren Berland, Helene J. Bustad, Sigrid Erdal, Bryony A. Thompson, Paul A. James, Kjersti N. Power, Stale Ellingsen, Martin Krooni, Line I. Berge, Adrienne Sexton, Laurence A. Bindoff, Per M. Knappskog, Stefan Johansson, Ingvild Aukrust
Summary: Variants in STUB1 can cause both autosomal recessive SCAR16 and dominant SCA48, with novel dominantly inherited STUB1 variants in patients showing symptoms after 30 years of age, cerebellar atrophy, and cognitive/psychiatric phenotypes. Studies on the molecular properties of these dominant variants revealed impaired ubiquitin ligase activity and altered oligomerization properties of the CHIP, expanding the understanding of SCA48 and suggesting a need for re-evaluation of assumptions about unaffected carriers of recessive STUB1 variants in SCAR16 families. Further investigations are needed to verify the disease status of SCAR16 heterozygotes and elucidate the molecular relationship between SCA48 and SCAR16 diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Yubin Xie, Huiqin Li, Xiaotong Luo, Hongyu Li, Qiuyuan Gao, Luowanyue Zhang, Yuyan Teng, Qi Zhao, Zhixiang Zuo, Jian Ren
Summary: The visualization of biological sequences is crucial in the field of molecular and cellular biology. IBS 2.0 is a professional tool that allows concise and clear representation of protein and nucleotide sequences. It provides abundant graphical elements and database visualization module for batch visualization of biological sequences.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Clinical Neurology
Marco Onofrj, Angelo Di Iorio, Claudia Carrarini, Mirella Russo, Raffaella Franciotti, Alberto J. Espay, Laura S. Boylan, John-Paul Taylor, Massimo Di Giannantonio, Giovanni Martinotti, Enza M. Valente, Astrid Thomas, Laura Bonanni, Stefano Delli Pizzi, Fedele Dono, StefanoL Sensi
Summary: Patients with bipolar spectrum disorders (BSDs) have an increased risk of Parkinson's disease (PD). This study found that patients with BSD-PD have significant differences in family history, impulse control disorders, functional disorders, early occurrence of delusions or mild dementia, and mortality compared to PD patients. The presence of BSDs as a prodrome to PD negatively affects the course of the disease and is associated with detrimental neuropsychiatric features and treatment outcomes.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Maria Paulina Castelo Rueda, Athina Raftopoulou, Martin Goegele, Max Borsche, David Emmert, Christian Fuchsberger, Essi M. Hantikainen, Vladimir Vukovic, Christine Klein, Peter P. Pramstaller, Irene Pichler, Andrew A. Hicks
Summary: Mutations in the Parkin gene are a common cause of early-onset Parkinson's disease. Heterozygous carriers of these mutations may be at increased risk for developing clinical symptoms of the disease. This study identified specific biomarkers that could be used to identify variant carriers at greater risk of health issues.
FRONTIERS IN NEUROLOGY
(2021)
Review
Neurosciences
Iryna Kamienieva, Jerzy Duszynski, Joanna Szczepanowska
Summary: The familial form of Parkinson's disease is linked to mutations in specific genes, with mutations in the parkin gene being one of the most common causes of early-onset PD. Mitochondrial dysfunction is an emerging active player in the pathology of neurodegenerative diseases, as mitochondria are highly dynamic structures integrated with many cellular functions.
TRANSLATIONAL NEURODEGENERATION
(2021)
Article
Biochemistry & Molecular Biology
Iryna Kamienieva, Agata Charzynska, Jerzy Duszynski, Dominika Malinska, Joanna Szczepanowska
Summary: Most cases of Parkinson's disease are idiopathic and their causes are unknown. However, a small percentage of cases are caused by genetic mutations, with the parkin gene mutation being the most common. Mitochondrial dysfunction is believed to play a role in both idiopathic and genetic Parkinson's disease. However, different studies have reported inconsistent data on mitochondrial changes, which may be due to the genetic variability of the disease. This study investigates the mitochondrial function and dynamics in fibroblasts from Parkinson's disease patients with parkin mutations. Cluster analysis of the data revealed characteristic features of Parkinson's disease fibroblasts, including smaller and less complex mitochondrial networks, as well as decreased levels of mitochondrial biogenesis regulators and mitophagy mediators.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2023)
Article
Biochemistry & Molecular Biology
Tamotsu Nishida
Summary: PARIS, a substrate of the ubiquitin E3 ligase parkin, is involved in various pathological processes. SENP3 interacts with PARIS and enhances its ubiquitination independently of SUMOylation. MDM2 activation via the PI3K/AKT pathway is involved in PARIS ubiquitination in parkin-deficient cells.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Review
Biochemistry & Molecular Biology
Ahmad Perwez, Khushnuma Wahabi, Moshahid A. Rizvi
Summary: Parkin, an E3 ubiquitin ligase, is deregulated in various human cancers and plays a crucial role in cancer pathogenesis by controlling major cancer hallmarks. Dysfunction of Parkin leads to genomic instability, perturbed cell cycle, and tumor progression. Existing studies highlight the tumor suppressive potential of Parkin, emphasizing its therapeutic implications and value as a biomarker.
BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER
(2021)
Review
Biochemistry & Molecular Biology
Jun Goto, Yoichiro Otaki, Tetsu Watanabe, Masafumi Watanabe
Summary: Despite medical advances, cardiac disease remains a significant health issue with high mortality rates. Maladaptive cardiac remodeling, like hypertrophy and fibrosis, is a risk factor for heart failure, underscoring the important role of ubiquitylation in cardiac disease development. HECT-type E3 ligases play a crucial role in ubiquitylation and have been implicated in a wide range of human diseases, including cardiac diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Clinical Neurology
Ajith Cherian, K. P. Divya, Asish Vijayaraghavan
Summary: Our understanding of the genetic architecture underlying Parkinson's disease has greatly improved in the past 25 years. 5-10% of patients have a monogenic form of the disease. Mutations in autosomal dominant or recessive genes can cause genetic Parkinson's disease. The discovery of mutations in the RIC3 gene provides strong evidence for the role of the cholinergic pathway in the development of Parkinson's disease.
CURRENT OPINION IN NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Chi-Jing Choong, Hideki Mochizuki, Cesar Borlongan
Summary: Mitochondrial dysregulation is strongly associated with the pathogenesis of Parkinson's disease (PD), with mutated genes affecting mitochondrial features. Disruption of mitochondrial quality control and abnormal secretion of mitochondrial contents play a role in PD, and circulating mitochondrial DNAs can elicit inflammatory response.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biology
Chao Hou, Yuxuan Li, Mengyao Wang, Hong Wu, Tingting Li
Summary: Degpred is a deep learning-based model that predicts general degrons directly from protein sequences. It successfully captures typical degron-related sequence properties and predicts degrons beyond those identified by motif-based methods. Furthermore, it constructs a regulatory network of protein degradation by assigning predicted degrons to specific E3 ubiquitin ligases with calculated motifs.
Article
Geriatrics & Gerontology
George T. Kannarkat, Jae-Kyung Lee, Chenere P. Ramsey, Jaegwon Chung, Jianjun Chang, Isadora Porter, Danielle Oliver, Kennie Shepherd, Malu G. Tansey
NEUROBIOLOGY OF AGING
(2015)
Article
Neurosciences
Chenere P. Ramsey, Benoit I. Giasson
Review
Neurosciences
Chenere P. Ramsey, Malu G. Tansey
EXPERIMENTAL NEUROLOGY
(2014)
Article
Biochemistry & Molecular Biology
Chenere P. Ramsey, Elpida Tsika, Harry Ischiropoulos, Benoit I. Giasson
HUMAN MOLECULAR GENETICS
(2010)
Article
Neurosciences
Chenere P. Ramsey, Benoit I. Giasson
JOURNAL OF NEUROSCIENCE RESEARCH
(2010)
Article
Clinical Neurology
Chenere P. Ramsey, Charles A. Glass, Marshall B. Montgomery, Kathryn A. Lindl, Gillian P. Ritson, Luis A. Chia, Ronald L. Hamilton, Charleen T. Chu, Kelly L. Jordan-Sciutto
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2007)
Review
Geriatrics & Gerontology
Chenere P. Ramsey, Benoit I. Giasson
Article
Biochemistry & Molecular Biology
Pei-Yang Gao, Ya-Nan Ou, Yi-Ming Huang, Zhi-Bo Wang, Yan Fu, Ya-Hui Ma, Qiong-Yao Li, Li-Yun Ma, Rui-Ping Cui, Yin-Chu Mi, Lan Tan, Jin-Tai Yu
Summary: Liver function may play a role in the progression of Alzheimer's disease. The study found that as AD progressed, certain liver function markers increased while others decreased. The relationship between liver function and CSF AD biomarkers indicates a potential mediation effect on cognition.
JOURNAL OF NEUROCHEMISTRY
(2024)