Article
Veterinary Sciences
Kyoko Yoshizaki, Akihiro Hirata, Hiroyuki Matsushita, Naohito Nishii, Mifumi Kawabe, Takashi Mori, Hiroki Sakai
Summary: The study developed highly reliable genetic tests for hereditary GI polyposis in JRTs, providing accurate assessment of the presence of the causative germline APC variant. The genotyping assays could contribute to the diagnosis and prevention of hereditary GI polyposis in dogs.
BMC VETERINARY RESEARCH
(2021)
Article
Oncology
Kyoko Yoshizaki, Akihiro Hirata, Naohito Nishii, Mifumi Kawabe, Minami Goto, Takashi Mori, Hiroki Sakai
Summary: The increase in cases of gastrointestinal (GI) polyps in Jack Russell Terriers in Japan has been linked to adenomas or adenocarcinomas. The presence of heterozygous germline APC mutations in all examined JRTs with GI polyps suggests a strong association with this cancer-prone disorder. Somatic mutation and loss of the wild-type APC allele in the GI tumors of JRTs indicate that biallelic APC inactivation is involved in tumor development in dogs.
Article
Veterinary Sciences
Wakana Yoneji, Kyoko Yoshizaki, Akihiro Hirata, Kensuke Yoneji, Hiroki Sakai
Summary: Hereditary gastrointestinal (GI) polyposis is a recently discovered genetic disease in Jack Russell Terriers (JRTs) in Japan. Dogs with this disease develop solitary and multiple tumors in the stomach and/or colorectum, but have a better prognosis compared to sporadic cases. Our study found that some patients had more severe conditions, including tumors in the small intestine. Rare cases also experienced systemic metastasis of GI tumors.
VETERINARY SCIENCES
(2022)
Article
Veterinary Sciences
Wakana Yoneji, Kyoko Yoshizaki, Teruaki Hirota, Kensuke Yoneji, Ryutaro Yoshikawa, Takashi Mori, Hiroki Sakai, Akihiro Hirata
Summary: This study identified three different lineages of Jack Russell Terriers in which hereditary gastrointestinal polyposis was transmitted across generations in association with a mutation in the APC gene. These findings establish the transgenerational transmission of this disease in JRT lineages.
VETERINARY SCIENCES
(2023)
Review
Pharmacology & Pharmacy
Rosa Scala, Fatima Maqoud, Marina Antonacci, Jacopo Raffaele Dibenedetto, Maria Grazia Perrone, Antonio Scilimati, Karen Castillo, Ramon Latorre, Diana Conte, Said Bendahhou, Domenico Tricarico
Summary: Bisphosphonates are commonly used bone-specific anti-resorptive agents, but their effects on ion channels in musculoskeletal cells are poorly understood. Ion channels are emerging as potential targets for bisphosphonates, particularly the TRPV1 channel in osteoblasts. Further research in this area could provide insights into new therapeutic approaches for skeletal disorders.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Clinical Neurology
Marbella Quinonez, Marino DiFranco, Fenfen Wu, Stephen C. Cannon
Summary: Recurrent episodes of weakness in periodic paralysis are caused by intermittent loss of muscle fibre excitability. Retigabine, a potassium channel opener, can prevent the episodic loss of force and enhance recovery in mouse models of HypoPP. The protection and rescue effects of retigabine are well within the therapeutic window.
Article
Veterinary Sciences
Kyoko Yoshizaki, Akihiro Hirata, Hiroyuki Matsushita, Masahiro Sakaguchi, Wakana Yoneji, Keishi Owaki, Hiroki Sakai
Summary: The cases of gastrointestinal neoplastic polyps in Jack Russell Terriers (JRTs) have been increasing in Japan, and it has been found that JRTs with the germline variant in the adenomatous polyposis coli (APC) gene are susceptible to this disease, with a frequency of approximately 2%.
BMC VETERINARY RESEARCH
(2022)
Article
Physiology
Salma Allam, Rose Levenson-Palmer, Zuleen Chia Chang, Sukhjinder Kaur, Bryan Cernuda, Ananya Raman, Audrey Booth, Scott Dobbins, Gabrielle Suppa, Jian Yang, Zafir Buraei
Summary: Voltage-gated Ca2+ channels play a direct role in muscle contraction, neurotransmitter release, and other cellular processes. They are inhibited by RGK GTP-ases, which reduce channel membrane expression and directly inhibit membrane-resident channels. In this study, the authors demonstrate that the inhibition is dependent on channel inactivation and show that different channel types are differentially affected by RGKs.
FRONTIERS IN PHYSIOLOGY
(2023)
Review
Neurosciences
Jose Gazulla, Jose Berciano
Summary: Potassium channels (KCN) play a crucial role in regulating cell membrane potential and action potentials. Dysfunction of KCN has been associated with hereditary ataxias. Mutated KCN channels have been identified in spinocerebellar ataxia and episodic ataxia. Impaired K+ efflux in these diseases leads to abnormal depolarization and incomplete repolarization, affecting cell discharges. Potassium channel openers (KCO) could potentially ameliorate symptoms by promoting normal spiking activity. With further research, new specific KCO agents may provide promising therapeutic options for these diseases.
Article
Oncology
Xiaoyang Li, Yongsheng Zheng, Shaoyuan Li, Umesh Nair, Chong Sun, Chongbo Zhao, Jiahong Lu, Victor Wei Zhang, Snezana Maljevic, Steven Petrou, Jie Lin
Summary: A novel loss-of-function KCNC1 variant, p.R317S, was identified with symptoms resembling myoclonic epilepsy and ataxia, but distinct radiological features. Functional analysis revealed significantly decreased current amplitudes in the p.R317S variant compared to the wild type, suggesting a dominant-negative effect. Atomic structural analysis of the KCNC1 related variants provided a possible mechanistic explanation for the heterogeneity in the clinical spectrum.
ANNALS OF TRANSLATIONAL MEDICINE
(2021)
Article
Neurosciences
David D. Bushart, Annie J. Zalon, Hongjiu Zhang, Logan M. Morrison, Yuanfang Guan, Henry L. Paulson, Vikram G. Shakkottai, Hayley S. McLoughlin
Summary: SCA3 is the second most common CAG repeat disease caused by a glutamine-encoding expansion in the ATXN3 protein, leading to degeneration of the spinocerebellum and progressive motor coordination disorders. Studies suggest that early abnormalities in cerebellar cortical Purkinje neuron excitability may underlie SCA3, and intervention can restore neuronal excitability. While a broader range of potassium channel transcripts may be reduced in late-stage SCA3, cerebellar Purkinje neuron physiology remains stable despite worsening motor impairment, indicating dysfunction of other neuronal structures beyond the cerebellum may contribute to the progressive motor phenotype observed in SCA3.
Article
Biochemistry & Molecular Biology
Yalan Zhang, Imran H. Quraishi, Heather McClure, Luis A. Williams, YungChih Cheng, Siddharth Kale, Graham T. Dempsey, Sudhir Agrawal, David J. Gerber, Owen B. McManus, Leonard K. Kaczmarek
Summary: Mutations in the KCNC3 gene encoding the Kv3.3 channel cause SCA13, leading to motor behavior disruptions and cerebellar degeneration. Suppressing Kv3.3 expression in mice with the disease-causing mutation reversed the harmful effects, while having minimal impact on wild type animals. Targeting Kv3.3 expression could be a promising therapeutic strategy for SCA13.
Article
Biochemistry & Molecular Biology
Jan H. Doering, Julian Schroeter, Jerome Juengling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobias Dietel, G. Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Moller, Gaetan Lesca, Yves Chaix, Stefan Koelker, Georg F. Hoffmann, Johannes R. Lemke, Steffen Syrbe
Summary: Pathogenic variants in KCNA2 gene can lead to a range of neurological disorders with diverse clinical manifestations, including early-onset developmental and epileptic encephalopathy, intellectual disability, and movement disorders. Individuals with different types of variants may exhibit distinct clinical features, with carriers of complex and mixed channel dysfunction variants more likely to show early symptoms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Rachael M. Vacassenno, Christine N. Haddad, Robin L. Cooper
Summary: The resting membrane potential of cells is maintained by potassium K2p channels. The function and expression profiles of K2p channel subtypes in the Drosophila genome have not yet been determined. Doxapram depolarizes the muscle and motor neurons, increases the frequency of spontaneous quantal events and evoked excitatory junction potentials, and its effects are paralleled by verapamil. These findings are significant for understanding the function of pharmacological agents that affect K2p channels and their contribution to tissue physiology using the genetically amenable model of Drosophila.
COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY C-TOXICOLOGY & PHARMACOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Richard Agren, Niels Geerdink, Han G. Brunner, Martin Paucar, Erik-Jan Kamsteeg, Kristoffer Sahlholm
Summary: A five-year-old girl with headache attacks and gait disturbances was found to have a new variant KCND3 c.838G>A, p.E280K in her father and sisters, but not in her mother and brother. KCND3 encodes voltage-gated potassium channel D3 (Kv4.3) and mutations have been associated with spinocerebellar ataxia type 19/22 (SCA19/22) and cardiac arrhythmias. The family members did not exhibit ataxia or parkinsonism, but both sisters showed mild developmental delay. Functional experiments showed that E280K affects channel activation and inactivation. Overall, E280K is associated with developmental delay but appears to be relatively benign.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Veterinary Sciences
E. J. Ives, A. E. Vanhaesebrouck, K. Hughes
JOURNAL OF SMALL ANIMAL PRACTICE
(2018)
Article
Immunology
Timothy R. Hammond, Connor Dufort, Lasse Dissing-Olesen, Stefanie Giera, Adam Young, Alec Wysoker, Alec J. Walker, Frederick Gergits, Michael Segel, James Nemesh, Samuel E. Marsh, Arpiar Saunders, Evan Macosko, Florent Ginhoux, Jinmiao Chen, Robin J. M. Franklin, Xianhua Piao, Steven A. McCarroll, Beth Stevens
Article
Neurosciences
Roey Baror, Bjorn Neumann, Michael Segel, Kevin J. Chalut, Stephen P. J. Fancy, Dorothy P. Schafer, Robin J. M. Franklin
Review
Neurosciences
Sarah Foerster, Myfanwy F. E. Hill, Robin J. M. Franklin
Review
Clinical Neurology
An E. Vanhaesebrouck, David Beeson
CURRENT OPINION IN NEUROLOGY
(2019)
Article
Neurosciences
Hakan Cetin, Wei Liu, Jonathan Cheung, Judith Cossins, An Vanhaesebrouck, Susan Maxwell, Angela Vincent, David Beeson, Richard Webster
JOURNAL OF PHYSIOLOGY-LONDON
(2019)
Article
Clinical Neurology
An E. Vanhaesebrouck, Richard Webster, Susan Maxwell, Pedro M. Rodriguez Cruz, Judith Cossins, James Wickens, Wei-Wei Liu, Hakan Cetin, Jonathan Cheung, Hayley Ramjattan, Jacqueline Palace, David Beeson
Article
Veterinary Sciences
Marios Charalambous, Holger A. Volk, Andrea Tipold, Johannes Erath, Enrice Huenerfauth, Antonella Gallucci, Gualtiero Gandini, Daisuke Hasegawa, Theresa Pancotto, John H. Rossmeisl, Simon Platt, Luisa De Risio, Joan R. Coates, Mihai Musteata, Federica Tirrito, Francesca Cozzi, Laura Porcarelli, Daniele Corlazzoli, Rodolfo Cappello, An Vanhaesebrouck, Bart J. G. Broeckx, Luc Van Ham, Sofie F. M. Bhatti
JOURNAL OF VETERINARY INTERNAL MEDICINE
(2019)
Article
Neurosciences
Sarah Foerster, Alerie Guzman de la Fuente, Yoshiteru Kagawa, Theresa Bartels, Yuji Owada, Robin J. M. Franklin
Article
Veterinary Sciences
Sergio A. Gomes, Luc Van Ham, Anouk Van Ham, Edward J. Ives, An Vanhaesebrouck
JOURNAL OF THE AMERICAN ANIMAL HOSPITAL ASSOCIATION
(2020)
Article
Biochemistry & Molecular Biology
Richard G. Webster, An E. Vanhaesebrouck, Susan E. Maxwell, Judith A. Cossins, Weiwei Liu, Ryo Ueta, Yuji Yamanashi, David M. W. Beeson
HUMAN MOLECULAR GENETICS
(2020)
Review
Biochemistry & Molecular Biology
Civia Z. Chen, Bjorn Neumann, Sarah Forster, Robin J. M. Franklin
Summary: Myelin sheaths are crucial for neuronal function by supporting axonal integrity and rapid impulse conduction. In response to demyelinating injuries in the CNS, OPCs can undergo remyelination. OPCs might be a major source of CNS-resident SCs, which could be an attractive target for promoting endogenous remyelination.
Article
Veterinary Sciences
Paige E. Walker, Paul Freeman, Susana R. Monforte Monteiro, Nicholas Bexfield, Georgina Harris, Heidi Radke, Lisa Alves, An E. Vanhaesebrouck
Summary: This retrospective study analyzed 520 cases referred to neurology services and found that the majority of cats and dogs referred did not have underlying neurological disorders. It is important to thoroughly examine and consider alternative diagnoses for animals presenting with lameness or normal neurological examination.
Review
Neurosciences
Robin J. M. Franklin, Mikael Simons
Summary: Understanding the role of inflammation in remyelination is crucial for addressing the challenge of progressive multiple sclerosis.
Article
Veterinary Sciences
An Vanhaesebrouck, Mario Van Poucke, Kimberley Stee, Nicolas Granger, Edward Ives, Iris Van Soens, Ine Cornelis, Kenny Bossens, Luc Peelman, Luc Van Ham, Sofie F. M. Bhatti
Summary: This study investigates the association between KCNJ10 and CAPN1 and myokymia or neuromyotonia, with or without concurrent spinocerebellar ataxia.
JOURNAL OF VETERINARY INTERNAL MEDICINE
(2023)
Article
Veterinary Sciences
L. Alibrandi, R. Tognetti, O. Domenech, M. Croce, M. Giuntoli, G. Grosso, T. Vezzosi
Summary: This study assessed the feasibility and diagnostic reliability of a new smartphone-based ECG device in dogs, and found no significant differences compared to a traditional ECG device. The results suggest that the smartphone-based device is clinically reliable for assessing heart rate and rhythm in dogs.
VETERINARY JOURNAL
(2024)
