Results 61 to 70 of about 4,222 (186)

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Mitochondrial Ca2+ uniporter haploinsufficiency leads to sexually dimorphic redox imbalance and metabolic remodelling in the mouse brain

The Journal of Physiology, EarlyView.
Abstract figure legend The genetic inactivation of one Mcu allele leads to sex‐specific changes in neuronal function in adult mice, that is, the firing of action potentials and the relationship between cytosolic and mitochondrial Ca2+ levels. The ability to produce NAD(P)H by stimulated neural tissue is largely preserved in male mice but delayed in ...
Jenna Gray, Girish Halemirle, Beatriz Ferrán, Hadyn Rose, Traci L. Redwine, Sophia Pham, Bo Hagy, Atul Pranay, Jennifer Giorgione, Stacy A. Hussong, Veronica Galvan, Kenneth Humphries, Holly Van Remmen, Mike Kinter, William E. Sonntag, Pankaj K. Singh, Carlos Manlio Díaz‐García   +16 more
wiley   +1 more source

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy

Molecular Genetics & Genomic Medicine, 2021
Background Leigh syndrome, the most common mitochondrial syndrome in pediatrics, has diverse clinical manifestations and is genetically heterogeneous.
Ke Gong, Li Xie, Zhong‐shi Wu, Xia Xie, Xing‐xing Zhang, Jin‐Lan Chen   +5 more
doaj   +1 more source

Development and validation of cuproptosis-related genes in synovitis during osteoarthritis progress

Frontiers in Immunology, 2023
Osteoarthritis (OA) is one of the most common refractory degenerative joint diseases worldwide. Synovitis is believed to drive joint cartilage destruction during OA pathogenesis. Cuproptosis is a novel form of copper-induced cell death.
Bohan Chang, Zhehan Hu, Liang Chen, Zhuangzhuang Jin, Yue Yang   +4 more
doaj   +1 more source

PGC1α promotes cholangiocarcinoma metastasis by upregulating PDHA1 and MPC1 expression to reverse the Warburg effect [PDF]

Cell Death & Disease, 2018
AbstractPGC1α acts as a central regulator of mitochondrial metabolism, whose role in cancer progression has been highlighted but remains largely undefined. Especially, it is completely unknown about the effect of PGC1α on cholangiocarcinoma (CCA). Here we showed that PGC1α overexpression had no impact on CCA growth despite the decreased expression of ...
Dan Li, Wang, Chaoqun, Ma, Panfei, Yu, Qingan, Gu, Mingqi, Dong, Liqian, Jiang, Wenjing, Pan, Shangha, Xie, Changming, Han, Jihua, Lan, Yaliang, Sun, Jing, Sheng, Ping, Liu, Kunpeng, Wu, Yaohua, Liu, Lianxin, Ma, Yong, Jiang, Hongchi   +17 more
openaire   +2 more sources

Antioxidant supplementation blunts the proteome response to 3 weeks of sprint interval training preferentially in human type 2 muscle fibres

The Journal of Physiology, EarlyView.
Abstract figure legend Sprint interval training (SIT) is a popular time‐efficient type of endurance training. Healthy young men performed nine SIT sessions (4–6 × 30 s all‐out cycling sprints) over 3 weeks while being supplemented with antioxidants (high doses of vitamins C and E) or placebo. Muscle biopsies taken before and after the first SIT session
Victoria L. Wyckelsma, Marta Murgia, Sigitas Kamandulis, Stefano Gastaldello, Marius Brazaitis, Audrius Snieckus, Nerijus Eimantas, Mati Pääsuke, Sebastian Edman, William Apro, Daniel C. Andersson, Håkan Westerblad, Tomas Venckunas   +12 more
wiley   +1 more source

Cardiac-Specific Deletion of the Pdha1 Gene Sensitizes Heart to Toxicological Actions of Ischemic Stress [PDF]

Toxicological Sciences, 2016
Pyruvate dehydrogenase (PDH) plays a key role in aerobic energy metabolism and occupies a central crossroad between glycolysis and the tricarboxylic acid cycle. We generated inducible cardiac-specific PDH E1α knockout (CreER(T2)-PDH(flox/flox)) mice that demonstrated a high mortality rate.
Wanqing, Sun, Nanhu, Quan, Lin, Wang, Hui, Yang, Dongyang, Chu, Quan, Liu, Xuezhong, Zhao, Jiyan, Leng, Ji, Li   +8 more
openaire   +4 more sources

A novel prognostic signature of cuproptosis-related genes and the prognostic value of FDX1 in gliomas

Frontiers in Genetics, 2022
Background: Gliomas are the most common malignant tumors of the central nervous system, with extremely bad prognoses. Cuproptosis is a novel form of regulated cell death. The impact of cuproptosis-related genes on glioma development has not been reported.
HuaXin Zhu, HuaXin Zhu, Qinsi Wan, Jiacong Tan, Jiacong Tan, Hengyang Ouyang, Xinyi Pan, MeiHua Li, YeYu Zhao   +8 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa

Molecular Genetics and Metabolism Reports, 2020
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gene is
Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman   +6 more
doaj   +1 more source