Results 41 to 50 of about 3,031 (152)

Hypoglycaemia related to inherited metabolic diseases in adults

Orphanet Journal of Rare Diseases, 2012
In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious.
Douillard Claire, Mention Karine, Dobbelaere Dries, Wemeau Jean-Louis, Saudubray Jean-Marie, Vantyghem Marie-Christine   +5 more
doaj   +1 more source

Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer

Molecular Oncology, Volume 20, Issue 7, Page 1667-1693, July 2026.
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni, Antonella Palmese, Stefano Scalera, Laura Cipriani, Davide Mascolo, Patrizia Vici, Teresa Arcuri, Lorena Filomeno, Eriseld Krasniqi, Giovanni Blandino, Giulia Bon, Marcello Maugeri‐Saccà   +11 more
wiley   +1 more source

Ribosomal Proteins in Cell Biology and Cancer

MedComm – Oncology, Volume 5, Issue 2, June 2026.
The functions of ribosomal proteins (RPs) extend beyond the conventional translation process, as they also regulate gene expression, stress responses, and disease progression. Dysregulation of RPs contributes to the onset and progression of various diseases, including cancer and ribosomopathies, underscoring their dual role as critical disease ...
Ao Zhang, Zeguang Sun, Xinyang Song, Xikun Zhou, Jing Li   +4 more
wiley   +1 more source

Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency [PDF]

Brain, 2007
Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency (GA1) develop striatal lesions that leave them permanently disabled. To better understand mechanisms of striatal degeneration, we retrospectively studied imaging results from 25 Amish GA1 patients homozygous for 1296C>T mutations in GCDH. Asymptomatic infants
Kevin A, Strauss, Jelena, Lazovic, Max, Wintermark, D Holmes, Morton   +3 more
openaire   +2 more sources

Mechanisms of triglyceride-lowering effect of an HMG-CoA reductase inhibitor in a hypertriglyceridemic animal model, the Zucker obese rat.

Journal of Lipid Research, 1992
Inhibitors of 3-hydroxy-3-methyl glutaryl coenzyme A (HMG-CoA) reductase have been approved for treatment of hypercholesterolemia in humans. This class of therapeutic agents, in addition to lowering plasma cholesterol, reduces plasma triglyceride levels.
SE Kasim, RC LeBoeuf, S Khilnani, L Tallapaka, D Dayananda, KL Jen   +5 more
doaj   +1 more source

Unravelling the biochemical aspects of the interaction between ticks and Leishmania using a tick cell line

Medical and Veterinary Entomology, Volume 40, Issue 2, Page 350-359, June 2026.
Leishmania infantum propagated in IDE8 tick cell line in vitro. L. infantum reduces tick cell viability and induces reactive oxygen species production. Lipidic profile of IDE8 tick cell line is altered during Leishmania infection. Abstract Leishmaniasis comprises a group of vector‐borne neglected tropical diseases caused by species of the obligatory ...
Beatriz Filgueiras Silvestre, Karoline dos Anjos Lima, Fernanda de Paula Pepino, Daniela Cosentino‐Gomes, Adivaldo Fonseca, Lesley Bell‐Sakyi, Georgia Correa Atella, Lucia H. Pinto‐da‐Silva   +7 more
wiley   +1 more source

Glutaric aciduria type I with high residual glutaryl‐CoA dehydrogenase activity [PDF]

Developmental Medicine & Child Neurology, 1998
Two brothers with dystonia and slight MRI changes in the basal ganglia had normal urinary glutaric acid excretion, but slightly increased 3‐hydioxyglutarate and conjugated glutarate excretions. Both siblings have high residual glutaryl‐CoA dehydrogenase activity, and are compound heterozygotes for two mutations ‐ R227P and V400M ‐ reported to be ...
M, Pineda, A, Ribes, C, Busquets, M A, Vilaseca, A, Aracil, E, Christensen   +5 more
openaire   +2 more sources

Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings

Radiology Case Reports
Glutaric aciduria type 1 is a rare autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine, and L-tryptophan. It is an inherited
Pradeep Raj Regmi, MD, Aalok Kumar Yadav, MD, Bibek Koirala, MD, Shreelal Yadav, MD, Suraj Shrestha, MBBS   +4 more
doaj   +1 more source

A Case of Glutaric Aciduria Type I with a Novel Mutation

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2.
Nilgun Uyduran Unal, Deniz Kor, Didem Yucel, Gulen Gul Mert, Neslihan Onenli Mungan   +4 more
doaj  

Regulation of pyruvate dehydrogenase complex: Dancing to different drums in cancer

International Journal of Cancer, Volume 158, Issue 6, Page 1464-1480, 15 March 2026.
Abstract Mechanisms governing the regulation of pyruvate dehydrogenase complex (PDC) are markedly modified in cancer cells compared to normal cells. PDC activity in normal cells is controlled by the reversible phosphorylation of three serine residues by dedicated kinases and phosphatases.
Mulchand S. Patel, Todd C. Rideout
wiley   +1 more source