Results 71 to 80 of about 6,030 (184)

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Maternal nutrition as a key determinant of placental and developing blood–brain barrier xenobiotic protective functions

The Journal of Physiology, EarlyView.
Abstract figure legend Suboptimal maternal nutrition alters placental and developing blood–brain barrier (BBB) protective function and is associated with increased fetal brain vulnerability. In the placenta, nutritional adversity may reduce the exchange surface area and promote meta‐inflammation, compromising barrier efficiency in a model‐ and context ...
Kristin L. Connor, Nycolle I. S. Souza, Bruno G. Anjos, Stephen G. Matthews, Enrrico Bloise   +4 more
wiley   +1 more source

Self‐Assembly of Therapeutic Peptides for Enhanced Cancer Therapy: Strategies, Therapeutic Performance, and Future Perspectives

MedComm – Biomaterials and Applications, Volume 5, Issue 4, December 2026.
Therapeutic peptide self‐assembly is governed by multiple non‐covalent interactions, enabling the construction of diverse supramolecular structures. These self‐assembled systems can be engineered through spontaneous self‐assembly of monomers, co‐assembly, or stimulus‐responsive strategies to improve tumor delivery efficiency.
Yuelin Fang, Xue Wan, Shihe Wang, Honglan Dai, Huiling Zeng, Nan Chen, Xinxin Zhang   +6 more
wiley   +1 more source

Therapeutic Reversal of Severe Neuropsychiatric Symptoms in Wilson's Disease: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Wilsons disease is an autosomal recessive genetic disorder of copper metabolism that results in copper accumulation in liver and other organs. Hepatic manifestation tends to occur earlier than the neurological manifestation. We present a case with psychiatric presentation.
Tshering Penjor, Sangay Dorji, Sonam Wangchuk   +2 more
wiley   +1 more source

ATP7B expression in human glioblastoma is related to temozolomide resistance

Oncology Letters, 2017
Glioblastoma multiforme (GBM) is one of the most aggressive types of brain malignancy, with resistance to chemotherapy being a primary treatment obstacle. ATPase copper transporting β (ATP7B) is involved in multidrug resistance; however, its expression in GBM remains to be evaluated.
Moinuddin, F.M., Hirano, Hirofumi, Shinsato, Yoshinari, Higa, Nayuta, Arita, Kazunori, Furukawa, Tatsuhiko   +5 more
openaire   +3 more sources

Selective AUTAC‐mediated ATP7B degradation unlocks cuproptosis vulnerability in pancreatic ductal adenocarcinoma

Clinical and Translational Medicine, Volume 16, Issue 11, November 2026.
ATP7B is aberrantly upregulated in PDAC cells, contributing to the maintenance of copper homeostasis. We designed ATAUTAC, a targeted autophagy‐dependent degradation molecule that selectively eliminates ATP7B. By disrupting copper balance, ATAUTAC sensitizes PDAC cells to cuproptosis, thereby amplifying copper‐induced metabolic stress and effectively ...
Zihan Zhang, Min Li, Jiale Feng, Jian‐Ang Li, Lei Zhang   +4 more
wiley   +1 more source

A High-Calorie Diet Aggravates Mitochondrial Dysfunction and Triggers Severe Liver Damage in Wilson Disease RatsSummary

Cellular and Molecular Gastroenterology and Hepatology, 2019
Background & Aims: In Wilson disease, ATP7B mutations impair copper excretion into bile. Hepatic copper accumulation may induce mild to moderate chronic liver damage or even acute liver failure.
Claudia Einer, Christin Leitzinger, Josef Lichtmannegger, Carola Eberhagen, Tamara Rieder, Sabine Borchard, Ralf Wimmer, Gerald Denk, Bastian Popper, Frauke Neff, Elena V. Polishchuk, Roman S. Polishchuk, Stefanie M. Hauck, Christine von Toerne, Jennifer-Christin Müller, Uwe Karst, Bipin S. Baral, Alan A. DiSpirito, Andreas E. Kremer, Jeremy Semrau, Karl Heinz Weiss, Simon Hohenester, Hans Zischka   +22 more
doaj   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

Genetic Testing in Movement Disorders: Riding the Wave Without Being Swept Under

Movement Disorders, EarlyView.
Alessio Di Fonzo, Francesca Magrinelli
wiley   +1 more source

Nuances in ATP7B Genetic Testing and Interpretation in India

Journal of Clinical and Experimental Hepatology
Wilson disease is a monogenic (ATP7B gene) multisystemic disorder that affects copper metabolism. The hepatic variant is aggressive in Indian children. There are fallacies in the clinico-biochemical criteria for diagnosis, which result in dilemmas and delays in therapy.
Amresh K. Mishra, Moinak Sen Sarma, Amita Moirangthem, Haseena Sait   +3 more
openaire   +2 more sources