Article
Dermatology
Sabine Jaegle, Hao-Hsiang Hsu, Hazem A. Juratli, Andreas D. Zimmer, Amelie Prieschl, Svenja Alter, Bernhard Wiedenhofer, Dieter Metze, Steffen Emmert, Judith Fischer
Summary: By analyzing a cohort of 5 HLP patients, rare variants in the SPTLC1 gene were identified as the genetic cause of HLP. The detected variants were frameshift or splicing variants, leading to reduced SPTLC1 protein levels. Diminished SPTLC1, the key enzyme in sphingolipid biosynthesis, contributes to the development of HLP.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Medicine, General & Internal
Zhong Luo, Linhai Zhang, Juan Yang, Haiqing Zhang, Tao Liang
Summary: This case report presents a CMT patient with SOD1 gene mutation, providing new insights for clinical diagnosis of the disease. CMT is a neurodegenerative disease that can be slowed by physical therapy and rehabilitation, but cannot be cured.
Article
Biology
Nozomu Yoshioka, Masayuki Kurose, Masato Yano, Dang Minh Tran, Shujiro Okuda, Yukiko Mori-Ochiai, Masao Horie, Toshihiro Nagai, Ichizo Nishino, Shinsuke Shibata, Hirohide Takebayashi
Summary: DST-b mutations can cause late-onset protein aggregate myopathy and cardiomyopathy without neuropathy, and this isoform is essential for long-term maintenance of striated muscles.
Article
Cell Biology
Fei-Yang Tzou, Tsu-Yi Su, Wan-Syuan Lin, Han-Chun Kuo, Yu-Lian Yu, Yu-Han Yeh, Chung-Chih Liu, Ching-Hua Kuo, Shu-Yi Huang, Chih-Chiang Chan
Summary: Disruption of sphingolipid homeostasis can lead to neurological disorders, with specific sphingolipid species modulating pathogenesis through mechanisms that remain unclear. DEGS1/ifc deficiency causes dihydroceramide accumulation, leading to Rac1 mislocalization and NOX-dependent neurodegeneration. The Rac1-NOX complex plays a crucial role in the accumulation of reactive oxygen species in the absence of DEGS1/ifc.
Article
Biochemistry & Molecular Biology
Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frederic Favreau, Anne-Sophie Lia
Summary: Through analyzing targeted-NGS data of a patient using the CovCopCan bioinformatic tool, we discovered a deletion in the ATL3 gene which may be responsible for the patient's HSN symptoms.
Article
Clinical Neurology
Vivian Pedigone Cintra, Maike F. Dohrn, Pedro Jose Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Teixeira Camargos, Luiz Sergio Mageste Barbosa, Adriana P. Rebelo, Lisa Abreu, Matt Danzi, Wilson Marques, Stephan Zuchner
Summary: Hereditary sensory neuropathies (HSN) are rare neurological disorders with heterogeneous genetic characteristics. A study conducted in Brazil identified pathogenic variants in ATL3, SPTLC2, and SCN9A genes in 12 patients from five unrelated families, contributing to a better understanding of the genetic basis of HSN.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Neurosciences
Matthew R. Sapio, Diana M. King, Ellen S. Staedtler, Dragan Maric, Jahandar Jahanipour, Natalya A. Kurochkina, Allison P. Manalo, Andre Ghetti, Andrew J. Mannes, Michael J. Iadarola
Summary: This study evaluates the expression pattern of a painless neuropathy gene in human tissue and finds that it is widely expressed but not enriched in pain fibers.
EXPERIMENTAL NEUROLOGY
(2023)
Article
Neurosciences
Laura Behrendt, Christian Hoischen, Christoph Kaether
Summary: Mutations in the ER-network forming GTPase atlastin3 (ATL3) can cause axon degeneration of sensory neurons. The mutated ATL3 is excluded from distal axons by a selective barrier at the axon initial segment. Actin-depolymerization partially restores the transport of mutated ATL3 into distal axons.
NEUROBIOLOGY OF DISEASE
(2021)
Review
Genetics & Heredity
Hanrui Yu, Jie Wu, Jinju Cong, Mingxiong Chen, Yifei Huang, Jifeng Yu, Liqiang Wang
Summary: PRDM12 mutation is associated with various clinical manifestations of CIP. This study identified pain insensitivity, tongue and lip defects, and corneal ulcers as the clinical characteristics of PRDM12 mutation. The findings contribute to the diagnosis and treatment of this disease.
FRONTIERS IN GENETICS
(2023)
Article
Clinical Neurology
Andrea Maier, Romina Kapfenberger, Istvan Katona, Joachim Weis, Jorg B. Schulz, Roman Rolke
Summary: In this retrospective analysis of autoimmune autonomic neuropathy (AAN) patients, it was found that neuropathic pain was not as common as sensory loss. Sensory loss was widely distributed, mainly affecting cold and warm detection thresholds and the thermal sensory limen. Serostatus was not a significant predictor of small fiber deficit in AAN.
JOURNAL OF NEUROLOGY
(2022)
Article
Multidisciplinary Sciences
Takeshi Yamamotoya, Shun Hasei, Yasuyuki Akasaka, Yukino Ohata, Yusuke Nakatsu, Machi Kanna, Midori Fujishiro, Hideyuki Sakoda, Hiraku Ono, Akifumi Kushiyama, Hidemi Misawa, Tomoichiro Asano
Summary: Loss of Trk-fused gene (TFG) in motor neurons leads to neuromuscular junction (NMJ) degeneration and muscle atrophy, while lack of TFG in muscles may have additional effects. These findings are important for understanding the mechanisms associated with neurodegenerative diseases.
SCIENTIFIC REPORTS
(2022)
Article
Dermatology
Raziyeh Khalesi, Nailah Harvey, Masoud Garshasbi, Elnaz Kalamati, Leila Youssefian, Hassan Vahidnezhad, Jouni Uitto
Summary: In this study, two families with pathogenic DST gene variants were reported, expanding the genotype and phenotype spectrum of DST.
EXPERIMENTAL DERMATOLOGY
(2022)
Review
Pharmacology & Pharmacy
Zsuzsanna Putz, Dora Tordai, Noemi Hajdu, Orsolya Erzsebet Vagi, Miklos Kempler, Magdolna Bekeffy, Anna Erzsebet Korei, Ildiko Istenes, Viktor Horvath, Anca Pantea Stoian, Manfredi Rizzo, Nikolaos Papanas, Peter Kempler
Summary: This review summarizes the role of vitamin D in diabetic neuropathy and the latest data on its treatment. Studies suggest that vitamin D deficiency is associated with peripheral neuropathy, diabetic foot ulcers, and cardiac autonomic neuropathy in diabetes. Vitamin D supplementation may be an effective adjunctive therapy for neuropathic pain and can potentially slow down the progression of neural damage.
CLINICAL THERAPEUTICS
(2022)
Article
Clinical Neurology
Matej Skorvanek, Robert Jech, Juliane Winkelmann, Michael Zech
Summary: A male patient with immunodeficiency of unknown etiology since childhood developed a medication-refractory choreodystonic movement disorder at the age of 42. Exome-wide molecular testing revealed a pathogenic variant in the CD40LG gene, confirming the existence of a CD40LG-related condition combining compromised immunity with neurodegenerative movement abnormalities. Establishing the diagnosis is crucial due to potential life-threatening immunological complications.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Clinical Neurology
Chuan-bin Sun, Hai-xia Bai, Dan-ni Xu, Qing Xiao, Zhe Liu
Summary: This study reported a case of isolated LHON with a low mutant load of m.13513G>A mutation, and recommended NGS of the full mitochondrial DNA genome for LHON suspects when targeted PCR amplification for main LHON primary mutations was negative.
FRONTIERS IN NEUROLOGY
(2021)
Article
Neurosciences
Nobuya Sano, Yoshihisa Nakayama, Hiroaki Ishida, Satomi Chiken, Eiji Hoshi, Atsushi Nambu, Yukio Nishimura
Summary: Cerebellar outputs from the dentate nucleus (DN) influence activity in the primary motor cortex (M1) during both spontaneous and movement-related activity. Different types of M1 neurons show varied responses to DN stimulation, with facilitation- and suppression-type neurons exhibiting higher firing rates compared to no-response-type neurons during arm reaching tasks. Pharmacological inactivation of the DN reduces both spontaneous firing rates and movement-related activity in the M1.
NEUROSCIENCE RESEARCH
(2021)
Article
Neurosciences
Woranan Wongmassang, Taku Hasegawa, Satomi Chiken, Atsushi Nambu
Summary: The basal ganglia control voluntary movements through firing rate changes in the external and internal segments of the globus pallidus, with correlated activity playing a minor role in motor control in the healthy state.
EUROPEAN JOURNAL OF NEUROSCIENCE
(2021)
Article
Multidisciplinary Sciences
Yuko Fukata, Xiumin Chen, Satomi Chiken, Yoko Hirano, Atsushi Yamagata, Hiroki Inahashi, Makoto Sanbo, Hiromi Sano, Teppei Goto, Masumi Hirabayashi, Hans-Christian Kornau, Harald Pruess, Atsushi Nambu, Shuya Fukai, Roger A. Nicoll, Masaki Fukata
Summary: This study reveals LGI1-ADAM22-MAGUK as an essential component of transsynaptic nanoarchitecture for precise synaptic transmission and epilepsy prevention.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Medicine, Research & Experimental
Tushar Emran, Nowreen Islam Chowdhury, Manoneeta Sarker, Asim Kumar Bepari, Murad Hossain, G. M. Sayedur Rahman, Hasan Mahmud Reza
Summary: The study demonstrated that L-carnitine plays a protective role against cardiac and renal damage in ISO-treated MI rat model by suppressing oxidative stress, increasing antioxidant enzyme functions, and inhibiting TNF-alpha and IL-1 beta.
BIOMEDICINE & PHARMACOTHERAPY
(2021)
Article
Biochemistry & Molecular Biology
Norihisa Bizen, Asim K. Bepari, Li Zhou, Manabu Abe, Kenji Sakimura, Katsuhiko Ono, Hirohide Takebayashi
Summary: Olig2 is essential for the fate-specification of motoneurons and oligodendrocytes in the embryonic spinal cord, as well as the proliferation and differentiation of neural progenitor cells (NPCs) and oligodendrocytes. This study identifies a novel Olig2-binding protein, Ddx20, which is necessary for the survival of NPCs and oligodendrocyte progenitor cells (OPCs). Ddx20 depletion results in apoptosis and cell cycle arrest in NPCs and OPCs through activation of the p53 pathway. Additionally, Olig2 stabilizes Ddx20 protein to promote NPC proliferation.
CELL DEATH AND DIFFERENTIATION
(2022)
Review
Biochemistry & Molecular Biology
Jannatun Nayem Namme, Asim Kumar Bepari, Hirohide Takebayashi
Summary: The cytoskeleton of eukaryotic cells comprises microtubules, intermediate filaments, and actin filaments, with cofilin playing a crucial role in regulating actin dynamics in CNS development and function. Cofilin's activities are tightly controlled by various factors, such as phosphorylation and oxidative stress. Recent research has highlighted the significant impact of cofilin dysregulation on neurodegenerative diseases, emphasizing its importance in CNS physiology and pathophysiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Multidisciplinary Sciences
Preeti Jain, Asim Kumar Bepari, Prosengit Kumer Sen, Tanzir Rafe, Rashed Imtiaz, Maqsud Hossain, Hasan Mahmud Reza
Summary: The study revealed a worsening MDR situation in Bangladesh, limiting treatment options and exacerbating the global MDR crisis. Metallo-beta-lactamase and ESBL genes were predominant in clinical E. coli isolates, while various antibiotic resistance genes were found in resistant isolates.
SCIENTIFIC REPORTS
(2021)
Article
Neurosciences
Kingshuk Chakravarty, Sangheeta Roy, Aniruddha Sinha, Atsushi Nambu, Satomi Chiken, Jeanette Hellgren Kotaleski, Arvind Kumar
Summary: The basal ganglia is crucial for motor and cognitive functions. Persistent low-dopamine induces changes in steady-state population activity and transient response of the basal ganglia. This study used numerical simulations to identify key factors shaping the transient response in low-dopamine state.
Article
Multidisciplinary Sciences
Taku Hasegawa, Satomi Chiken, Kenta Kobayashi, Atsushi Nambu
Summary: In this study, we investigated the role of the subthalamic nucleus in stabilizing motor control. Chemogenetic inactivation of the subthalamic nucleus in monkeys resulted in increased spike train variability in the pallidum and prolonged movement time. Our findings suggest that the subthalamic nucleus plays a crucial role in stabilizing pallidal spike trains and achieving stable movements.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Olivier Darbin, Nobuhiko Hatanaka, Sayuki Takara, Nobuya Kaneko, Satomi Chiken, Dean Naritoku, Anthony Martino, Atsushi Nambu
Summary: This study developed a brain-machine interface for adaptive deep brain stimulation (aDBS) in Parkinsonian monkeys. The results showed that aDBS led to clinical benefits comparable to constant DBS (cDBS) while requiring a lower electrical charge delivery.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Asim Kumar Bepari, Hirohide Takebayashi, Jannatun Nayem Namme, Ghazi Muhammad Sayedur Rahman, Hasan Mahmud Reza
Summary: In this study, a computational approach was used to identify a blood-brain-barrier-permeable potent RIPK1 ligand with a novel chemotype. Molecular dynamics simulations validated the binding stability between the ligand and RIPK1. Therefore, this ligand may be a potential drug for inhibiting necroptosis in central nervous system inflammatory disorders.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Article
Multidisciplinary Sciences
Md Ashrafur Rahman, Arif Anzum Shuvo, Asim Kumar Bepari, Mehedi Hasan Apu, Manik Chandra Shill, Murad Hossain, Mohammed Uddin, Md Rabiul Islam, Monjurul Kader Bakshi, Javed Hasan, Atiqur Rahman, Ghazi Mohammad Sayedur Rahman, Hasan Mahmud Reza
Summary: Curcumin improves memory impairment in D-Gal and nature-induced aging mice by interacting with multiple proteins and inhibiting oxidative stress and damage.
Article
Cell Biology
Daisuke Tsuboi, Takeshi Otsuka, Takushi Shimomura, Md Omar Faruk, Yukie Yamahashi, Mutsuki Amano, Yasuhiro Funahashi, Keisuke Kuroda, Tomoki Nishioka, Kenta Kobayashi, Hiromi Sano, Taku Nagai, Kiyofumi Yamada, Anastasios Tzingounis, Atsushi Nambu, Yoshihiro Kubo, Yasuo Kawaguchi, Kozo Kaibuchi
Summary: Dysfunctional dopamine signaling is associated with various neuropsychological disorders. In this study, the researchers found that D1R-ERK signaling controls MSN excitability via KCNQ2 phosphorylation to regulate reward behavior.
Article
Biochemistry & Molecular Biology
Jannatun Nayem Namme, Hasan Mahmud Reza, Asim Kumar Bepari
Summary: Polymorphisms of ADAM10 are associated with various pathophysiological changes. This study analyzed the pathogenicity of ADAM10 non-synonymous single nucleotide polymorphisms (nsSNPs) using bioinformatics tools. Thirteen nsSNPs were predicted to be deleterious by all ten tools and C222G, G361E, and C639Y were identified as the most pathogenic mutations. Further analysis confirmed the stability of these variants. These findings suggest that ADAM10 nsSNPs could be potential candidates for genetic screening and therapeutic targeting.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Article
Multidisciplinary Sciences
Murad Hossain, Tamanna Tanjim Suchi, Farzana Samiha, M. M. Monirul Islam, Fahima Abdullah Tully, Javed Hasan, Md Ashrafur Rahman, Manik Chandra Shill, Asim Kumar Bepari, G. M. Sayedur Rahman, Hasan Mahmud Reza
Summary: Studies have shown that coenzyme Q10 can protect the liver and kidney from oxidative damage caused by the widely used pesticide carbofuran.