Article
Biochemistry & Molecular Biology
Yan Liu, Wenchao Sheng, Shaowei Hou, Mengzhu Hou, Ying Zhang, Xuetao Wang, Shuyue Zhang, Feiyu Zhou, Chunquan Cai, Wenhong Wang
Summary: This study reports a pRTA patient with the Arg166Trp variant and UPiD (4) pat, and analyzes the function of the Arg166Trp variant.
BIOCHEMICAL GENETICS
(2023)
Article
Medicine, General & Internal
Mahesh Dave, Manasvin Sareen, Anuj Goyal, Nagaraj T. Gonchikar, Yash Shah
Summary: This case report describes a rare complication of tenofovir, which caused distal renal tubular acidosis presenting as hypokalemic paralysis. Regular follow-up of patients taking tenofovir with urine analysis and serum potassium is recommended to detect and treat this reversible complication earlier.
JOURNAL OF THE ROYAL COLLEGE OF PHYSICIANS OF EDINBURGH
(2022)
Article
Dentistry, Oral Surgery & Medicine
Piranit Kantaputra, Yeliz Guven, Bagdagul Aksu, Tugba Kalayci, Cezmi Dogan, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Chumpol Ngamphiw, Kajohnsak Noppakun
Summary: Background. Mutations in the SLC4A4 gene have been associated with proximal renal tubular acidosis (RTA), short stature, band keratopathy, cataract, glaucoma, and hypoplastic-type amelogenesis imperfecta. In this study, the authors describe the clinical manifestations and molecular etiology of a patient with distal RTA. Case Description. The authors report on a girl with distal RTA who carried a novel homozygous base substitution in the SLC4A4 gene. The patient exhibited clinical manifestations of autoimmune thyroiditis and distal RTA, as well as enamel hypomaturation and pulp stones. The study highlights the importance of dentists recognizing that amelogenesis imperfecta may be indicative of underlying systemic diseases such as RTA, nephrocalcinosis, or nephrolithiasis.
JOURNAL OF THE AMERICAN DENTAL ASSOCIATION
(2022)
Article
Rheumatology
Pulukool Sandhya
Summary: Sjogren's syndrome with renal tubular acidosis (SS-RTA) is an early manifestation of Sjogren's syndrome characterized by younger age and subclinical sicca symptoms. Ocular and oral tests, as well as salivary gland histopathology, have a high positive yield. Hypokalemic paralysis is the most common presenting feature. RTA is mostly distal, and proximal dysfunction and complications are infrequently assessed.
INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES
(2023)
Article
Medicine, General & Internal
Saira Furqan, Sabiha Banu, Nanik Ram
Summary: This case report describes a 35-year-old Caucasian female with primary hypothyroidism and long-term hypokalemia, leading to osteoporosis. Despite no history of fractures, she presented with a left femoral fracture and subsequent workup revealed abnormal findings such as low vitamin D levels, positive anti-SSA antibodies, and possible sjogren's syndrome with type-1 renal tubular acidosis causing osteoporosis.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Article
Endocrinology & Metabolism
Pankaj Singhania, Abhranil Dhar, Aditya Deshpande, Debaditya Das, Neeti Agrawal, Partha Pratim Chakraborty, Rana Bhattacharjee, Ajitesh Roy
Summary: Proximal renal tubular acidosis (pRTA) is characterized by a defect in the ability of the proximal convoluted tubule to reabsorb bicarbonate. It is often associated with Fanconi syndrome and can present with rickets in children. We report six cases of rickets and short stature due to pRTA, with one case being idiopathic and the rest having specific underlying conditions.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Vivian C. Chukwuedozie, Tulika Garg, Hassan A. Chaudhry, Saima H. Shawl, Priya Mishra, Ngozi J. Adaralegbe, Aadil Khan
Summary: Proximal renal tubular acidosis (type 2 RTA) is a metabolic disorder that results in excessive urinary loss of bicarbonate and hyperchloremic metabolic acidosis. Hypokalemic periodic paralysis (HPP) is a manifestation of RTA characterized by broad muscle weakness and absent deep tendon reflexes.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Veterinary Sciences
James C. Barton, Peter-John Mantyla Noble, Erin M. O'Connell
Summary: This article describes a unique case of profound renal tubular acidosis (RTA) with proximal and distal renal tubular dysfunction in veterinary literature. Importantly, the authors hypothesize that the transient RTA may be a manifestation of acute kidney injury secondary to acute pancreatitis.
JOURNAL OF VETERINARY EMERGENCY AND CRITICAL CARE
(2022)
Article
Cell Biology
Yutaka Matsumura
Summary: The functional significance of the Na+/Ca2+ exchanger (NCX) in basolateral membranes in the proximal tubule is controversial. The key factor in crosstalk between the apical and basolateral sides is not known. However, our experimental results suggest that H+ ions could play a crucial role in this crosstalk.
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY
(2023)
Article
Medicine, General & Internal
Nidhi Kaeley, Anand M. Gangdev, Soumya Subhra Datta, Utkarsh P. Singh
Summary: Sjogren's syndrome is an autoimmune disorder characterized by dysfunction of exocrine glands due to inflammation caused by lymphocytic infiltration. It commonly affects the lacrimal and salivary glands, and can also present with systemic symptoms and renal tubular acidosis. Hypokalemia is the most prevalent electrolyte disorder in patients with distal RTA.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Endocrinology & Metabolism
Ian Jackson, Yazan Addasi, Moeed Ahmed, Bashar Ramadan, Karson Kalian, Noor Addasi, Ali Nayfeh, Jocelyn Taylor, Khalid Bashir, Bryan Krajicek
Summary: A case of acquired hypokalemic periodic paralysis associated with hyperthyroidism and renal tubular acidosis is presented. The patient's symptoms improved with comprehensive treatment, and further investigation revealed Sjogren's syndrome.
CASE REPORTS IN ENDOCRINOLOGY
(2021)
Article
Medicine, General & Internal
Humaira Achakzai, Sadia Khan, Qazi Kamran Amin, Naseer Ahmed, Safa Anwar
Summary: Hypokalemic periodic paralysis is a rare autosomal dominant disorder characterized by muscular weakness and paralysis caused by decreased potassium levels. Precipitating factors include diet and rest after exercise. Symptoms commonly occur between the ages of 15 and 40 and can result in limb paralysis lasting from hours to days. This condition is often associated with thyroid disorders and distal renal tubular acidosis.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Medicine, General & Internal
Jia Li
Summary: We report an unusual case of hypokalemic periodic paralysis caused by medullary sponge kidney with distal RTA. Active search for the etiology of unexplained hypokalemia is necessary.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Hematology
Lea A. Hampton-O'Neil, Charlotte E. Severn, Stephen J. Cross, Sonam Gurung, Catherine D. Nobes, Ashley M. Toye
Article
Neurosciences
Fraser J. Moss, Walter F. Boron
JOURNAL OF PHYSIOLOGY-LONDON
(2020)
Article
Multidisciplinary Sciences
Katy Connor, Maria Fannin, Julie Kent, Ashley Toye
Summary: This paper discusses the collaboration between an artist, a scientist, and two social scientists in research on cultured red blood cells. They reflect on their efforts to study cellular processes, particularly in the production of laboratory-grown blood, and highlight the generation of knowledge that transcends disciplinary boundaries.
INTERDISCIPLINARY SCIENCE REVIEWS
(2021)
Editorial Material
Hematology
Timothy J. Satchwell, Ashley M. Toye
Review
Hematology
Stephanie Pellegrin, Charlotte E. Severn, Ashley M. Toye
Summary: This review discusses recent progress in the erythroid culture field as well as opportunities for further scaling up of manufactured RBC production for transfusion practice.
Letter
Hematology
Tosti J. Mankelow, Allison Blair, David T. Arnold, Fergus W. Hamilton, Kathleen M. Gillespie, David J. Anstee, Ashley M. Toye
TRANSFUSION MEDICINE
(2022)
Editorial Material
Biochemistry & Molecular Biology
Ashley M. Toye
Summary: Two new papers discuss the successful purification of partially intact human native red blood cell band 3 multiprotein membrane complexes and subsequent examination of the structures and interactions of multiple erythrocyte proteins using high-resolution cryo-EM.
NATURE STRUCTURAL & MOLECULAR BIOLOGY
(2022)
Article
Hematology
Vanja Karamatic Crew, Louise A. Tilley, Timothy J. Satchwell, Samah A. AlSubhi, Benjamin Jones, Frances A. Spring, Piers J. Walser, Catarina Martins Freire, Nicoletta Murciano, Maria Giustina Rotordam, Svenja J. Woestmann, Marwa Hamed, Reem Alradwan, Mouza AlKhrousey, Ian Skidmore, Sarah Lewis, Shimon Hussain, Jane Jackson, Tom Latham, Mark D. Kiloy, William Lester, Nadine Becker, Markus Rapedius, Ashley M. Toye, Nicole M. Thornton
Article
Biochemistry & Molecular Biology
Lea P. Wilhelm, Juan Zapata-Munoz, Beatriz Villarejo-Zori, Stephanie Pellegrin, Catarina Martins Freire, Ashley M. Toye, Patricia Boya, Ian G. Ganley
Summary: This study reveals that both mitophagy and pexophagy are activated upon iron chelation in a BNIP3L/NIX-dependent manner. The NIX protein, known as a mitophagy receptor, is also found to localize to peroxisomes and drive pexophagy independently.
Article
Urology & Nephrology
Seong-Ki Lee, Rossana Occhipinti, Fraser J. Moss, Mark D. Parker, Irina I. Grichtchenko, Walter F. Boron
Summary: This study aims to differentiate the movements of HCO3 2, CO35, and H1 across membranes. Through electrophysiology and heterologous expression in Xenopus oocytes, the researchers investigated the transport of bicarbonate (HCO32) by SLC4 family members. The results showed that the Cl-HCO3 exchanger AE1 (SLC4A1) can transport HCO32, while the electrogenic Na/HCO3 cotransporter NBCe1 (SLC4A4) and the electroneutral Na1-driven Cl-HCO3 exchanger NDCBE (SLC4A8) cannot. Mathematical simulations further supported CO35 transport as the mechanism for NBCe1.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Chemistry, Multidisciplinary
Paco Lopez-Cuevas, Can Xu, Charlotte E. Severn, Tiah C. L. Oates, Stephen J. Cross, Ashley M. Toye, Stephen Mann, Paul Martin
Summary: This study demonstrates that silencing or knocking out a specific immune cell-expressed miRNA, microRNA-223 (miR223), can reduce cancer progression. By using miniature artificial protocells (PCs) to deliver anti-inflammatory miRNAs, the interactions between immune cells and cancer cells are altered, resulting in reduced tumor burden.
Article
Immunology
Alice Halliday, Anna E. Long, Holly E. Baum, Amy C. Thomas, Kathryn L. Shelley, Elizabeth Oliver, Kapil Gupta, Ore Francis, Maia Kavanagh Williamson, Natalie Di Bartolo, Matthew J. Randell, Yassin Ben-Khoud, Ilana Kelland, Georgina Mortimer, Olivia Ball, Charlie Plumptre, Kyla Chandler, Ulrike Obst, Massimiliano Secchi, Lorenzo Piemonti, Vito Lampasona, Joyce Smith, Michaela Gregorova, Lea Knezevic, Jane Metz, Rachael Barr, Begonia Morales-Aza, Jennifer Oliver, Lucy Collingwood, Benjamin Hitchings, Susan Ring, Linda Wooldridge, Laura Rivino, Nicholas Timpson, Jorgen McKernon, Peter Muir, Fergus Hamilton, David Arnold, Derek N. Woolfson, Anu Goenka, Andrew D. Davidson, Ashley M. Toye, Imre Berger, Mick Bailey, Kathleen M. Gillespie, Alistair J. K. Williams, Adam Finn
Summary: Low-volume antibody assays can be used to track SARS-CoV-2 infection rates in settings with limited active testing. The study developed and evaluated multiple antibody detection methods, demonstrating that low-volume in-house assays provide good diagnostic performance and better sensitivity than a commercial assay.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Cell Biology
Tiah C. L. Oates, Pedro L. Moura, Stephen Cross, Kiren Roberts, Holly E. Baum, Katy L. Haydn-Smith, Marieangela C. Wilson, Kate J. Heesom, Charlotte E. Severn, Ashley M. Toye
Summary: Macrophages can be divided into simplified subtypes based on phenotypical and functional differences. By generating all four subtypes from the same donor material, it was found that these macrophage subtypes have distinct protein expression profiles that correlate with specific cell functions. Importantly, the study provides evidence of a sliding scale of macrophage functionality and offers a valuable benchmark resource for further research.
IMMUNOLOGY AND CELL BIOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Seong-Ki Lee, Walter F. Boron, Rossana Occhipinti
Summary: Carbonic anhydrases (CAs) are essential for physiological processes due to their role in catalyzing the conversion of CO2 and water to bicarbonate and protons, impacting pH levels. In the kidneys, CAs and HCO3- transporters, specifically the NCBTs and AEs, play significant roles in urinary acid secretion, particularly HCO3- reabsorption. Recent findings suggest that NCBTs transport CO32- instead of HCO3-, suggesting a revised understanding of their function. This review examines the role of CAs and HCO3- transporters in renal acid-base physiology and discusses the implications of novel findings on HCO3- reabsorption.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Anu Goenka, Alice Halliday, Michaela Gregorova, Emily Milodowski, Amy Thomas, Maia Kavanagh Williamson, Holly Baum, Elizabeth Oliver, Anna E. Long, Lea Knezevic, Alistair J. K. Williams, Vito Lampasona, Lorenzo Piemonti, Kapil Gupta, Natalie Di Bartolo, Imre Berger, Ashley M. Toye, Barry Vipond, Peter Muir, Jolanta Bernatoniene, Mick Bailey, Kathleen M. Gillespie, Andrew D. Davidson, Linda Wooldridge, Laura Rivino, Adam Finn
Summary: The study suggests that severe cases of COVID-19 in infants are rare, and infants show distinct immune responses compared to adults, which may help protect them from severe disease.
CELL REPORTS MEDICINE
(2021)
