Results 81 to 90 of about 164,160 (174)

A new type of Na+-driven ATP synthase membrane rotor with a two-carboxylate ion-coupling motif [PDF]

, 2013
: The anaerobic bacterium Fusobacterium nucleatum uses glutamate decarboxylation to generate a transmembrane gradient of Na+. Here, we demonstrate that this ion-motive force is directly coupled to ATP synthesis, via an F1Fo-ATP synthase with a novel Na ...
Leone, V, Yildiz, Ö, Meier, T, Iglesias-Cans, M, Cook, G., Sarah Schulz (426341), Meier, Thomas, Sarah Schulz, Matthies, D., Meier, T. ; https://orcid.org/, Schulz, Sarah, Özkan Yildiz (244574), M. Cook, Gregory, Doreen Matthies (426343), Thomas Meier, José D. Faraldo-Gómez (426344), Faraldo-Gómez, J., José D Faraldo-Gómez, Yildiz, Ö. ; https://orcid.org/, Iglesias-Cans, Marina, Gregory M. Cook (255231), Krah, A, Alexander Krah, https://orcid.org/, Vanessa Leone, Cook, Gregory M., Yildiz, Özkan, Meier, Thomas Kurt, Alexander Krah (217992), Cook, GM, Iglesias-Cans, M., Schulz, S, Doreen Matthies, Schulz, S., Leone, Vanessa, Matthies, D, Leone, V., Marina Iglesias-Cans, Marina Iglesias-Cans (426342), Thomas Meier (244580), Gregory M Cook, Krah, Alexander, Matthies, Doreen, Faraldo-Gómez, José D., Faraldo-Gómez, JD, Vanessa Leone (266195), Ozkan Yildiz, Krah, A.   +47 more
core   +2 more sources

Transcriptomic study in explanted liver from a patient with acute intermittent porphyria

JIMD Reports, 2023
Acute intermittent porphyria (AIP) is a rare disease caused by a deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme‐synthesis pathway. Decreased enzymatic activity in the liver induces an overproduction of heme‐precursors and
Jordi To‐Figueras, Esther Titos, Paula Aguilera, Alba Díaz, Javier Muñoz‐Luque, Irene Madrigal, Celia Badenas, Mercè Torra, Constantino Fondevila, Jordi Colmenero   +9 more
doaj   +1 more source

Persistent Beetroot Colored Urine in a Three‐Year‐Old Child: A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
Clinically manifest porphyria cutanea tarda (PCT) is rare in children. Of ~1400 cases diagnosed at Porphyria Center Sweden, only five were children, all with pathogenic UROD variants and HFE homozygous. Diagnosis is often delayed; in our case, beetroot‐red urine prompted suspicion despite the absence of cutaneous symptoms.
Pauline Harper, Carl‐Johan Törnhage, Eliane Sardh   +2 more
wiley   +1 more source

The essential roles of cytidine diphosphate-diacylglycerol synthase in bloodstream form Trypanosoma brucei [PDF]

, 2014
Funded by Wellcome Trust: Senior Research Fellowship, Grant Number: 067441 and Wellcome Trust, Grant Numbers: 082596, 093228.Lipid metabolism in Trypanosoma brucei, the causative agent of African sleeping sickness, differs from its human host in several ...
Lilley, Alison C., Smith, Terry K., Smith, Terry K, Young, Simon, Stark, Michael J. R., Lilley, Alison Catherine, Major, Louise Laura, Major, Louise   +7 more
core   +1 more source

Mitochondrial Dysfunction and Defects in Mitochondrial Adaptation to Exercise Training in the Muscle of Patients With COPD: Disease Versus Disuse

Acta Physiologica, Volume 241, Issue 8, August 2025.
ABSTRACT Aim Chronic obstructive pulmonary disease (COPD) is frequently associated with skeletal muscle dysfunction, having a considerable impact on exercise tolerance and patient prognosis. Mitochondria play a role in skeletal muscle weakness and exercise intolerance in COPD, but the majority of studies on mitochondrial function are biased by the fact
Aldjia Abdellaoui, Farés Gouzi, Cécile Notarnicola, Annick Bourret, Amandine Suc, Dalila Laoudj‐Chenivesse, Nelly Héraud, Jacques Mercier, Christian Préfaut, Maurice Hayot, Pascal Pomiès   +10 more
wiley   +1 more source

Porphyric encephalopathy in a 15-year-old girl: A case report

SAGE Open Medical Case Reports
A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis.
Saihari S Dukkipati, Jordan Terschluse, Drew Thodeson, Angela Beavers, Melissa Muff-Luett, Claire Ives, Sookyong Koh   +6 more
doaj   +1 more source

No evidence for sylvatic cycles of chikungunya, dengue and Zika viruses in African green monkeys (Chlorocebus aethiops sabaeus) on St. Kitts, West Indies

Parasites & Vectors, 2020
Background Dengue, chikungunya and Zika viruses (DENV, CHIKV and ZIKV) are transmitted in sylvatic transmission cycles between non-human primates and forest (sylvan) mosquitoes in Africa and Asia.
Matthew John Valentine, Brenda Ciraola, Matthew Thomas Aliota, Michel Vandenplas, Silvia Marchi, Bernard Tenebray, Isabelle Leparc-Goffart, Christa Ann Gallagher, Amy Beierschmitt, Tatiana Corey, Kerry McAuliffe Dore, Xavier de Lamballerie, Chengming Wang, Courtney Cuin Murdock, Patrick John Kelly   +14 more
doaj   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source

Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria

, 1998
We have screened the hydroxymethylbilane synthase cDNAs of 3 patients from 2 families suffering from acute intermittent porphyria (AIP) from Scotland and South Africa using heteroduplex and chemical cleavage of mismatch analyses, Direct sequencing was ...
Cramp, CE, Hift, RJ, Lanyon, WG, Halkett, J, Ong, PML, Moore, MR, Connor, JM   +6 more
core   +1 more source

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria

Liver International, Volume 45, Issue 7, July 2025.
ABSTRACT Background and Aims This study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first‐degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing.
Mohsen Merati, Nanditha Jayakumar, Yuvraaj Kapoor, Hetanshi Naik, Manisha Balwani, Karl E. Anderson, Herbert L. Bonkovsky, Robert J. Desnick, Brendan McGuire, John Phillips, D. Montgomery Bissell, Bruce Wang   +11 more
wiley   +1 more source