Results 41 to 50 of about 162,948 (264)

The Eye on Mitochondrial Disorders [PDF]

Journal of Child Neurology, 2015
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype. This review aims at summarizing and discussing the etiology, pathogenesis, diagnosis, and treatment of ophthalmologic manifestations of mitochondrial disorders.
Finsterer, J., Zarrouk-Mahjoub, S., Daruich, A.   +2 more
openaire   +4 more sources

A young child with recurrent episodes of headaches and vision loss: Diagnostic clues?

Journal of Pediatric Neurosciences, 2021
MELAS is a mitochondrial cytopathy, with maternal inheritance and variable phenotype expression and severity depending on the degree of heteroplasmy. It presents with waxing and waning symptoms, in form of recurrent migrainous headache, transient loss of
Prateek Kumar Panda, Indar Kumar Sharawat, Avinish Singh, Poonam Sherwani   +3 more
doaj   +1 more source

The microbiome in human skin aging

FEBS Letters, EarlyView.
Age‐related skin changes encompass the well‐known visible phenotypic alterations, together with microbiome dysbiosis and a series of molecular aging hallmarks. These hallmarks characterize not only a fully stablished aged phenotype but also the skin aging process itself.
Manuel Huerta Arana, Cornelia Wiegand, Omid Omrani, Mario Fabri   +3 more
wiley   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Harel-Yoon syndrome: the first case report from Saudi Arabia

Journal of Biochemical and Clinical Genetics, 2020
Background: Harel-Yoon syndrome (HAYOS) is a recently described, rare neurodevelopmental disorder characterized by developmental delay, hypotonia, appendicular hypertonia, axonal neuropathy, and other variable features, such as spasticity and optic ...
Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai   +3 more
doaj   +1 more source

HSD10 disease in a female: A case report and review of literature

JIMD Reports, 2021
HSD10 disease is a rare X‐linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. The phenotype results from impaired 17β‐hydroxysteroid dehydrogenase 10 (17β‐HSD10) protein structure and function.
Jariya Upadia, Nicolette Walano, Grace S. Noh, Jiao Liu, Yuwen Li, Stephen Deputy, Lindsay T. Elliott, Joaquin Wong, Jennifer A. Lee, Raymond C. Caylor, Hans C. Andersson   +10 more
doaj   +1 more source

Ligand‐dependent transcriptional heterogeneity in cell cycle gene expression delays G1/S entry

FEBS Letters, EarlyView.
EGF and HRG induce distinct G1/S progression programs in ErbB2‐amplified BT474 breast cancer cells. Despite activating the potent ErbB2–ErbB3 heterodimer, HRG does not accelerate cell‐cycle entry. Instead, EGF promotes earlier restriction‐point passage via ERK–FOS signaling, whereas HRG activates the AKT–MYC axis, driving transcriptional heterogeneity ...
Ririn Rahmala Febri, Ayaka Nagasato‐Ichikawa, Keita Iida, Shuhei Kimura, Akira Imamoto, Mariko Okada   +5 more
wiley   +1 more source

Monogenic Mitochondrial Disorders [PDF]

New England Journal of Medicine, 2012
Rare monogenic disorders of mitochondria have shed light on mitochondrial function, and the development of therapeutic agents for these disorders may be applicable to more common sporadic diseases characterized by mitochondrial dysfunction.
Koopman, W.J.H., Koopman, W.J.H., Willems, P.H.G.M., Smeitink, J.A.M., Smeitink, J.A.M.   +4 more
openaire   +3 more sources

MELAS syndrome as a unusual cause of hypoparathyroidism: clinical case

Остеопороз и остеопатии, 2019
MELAS syndrome belongs to the group of progressive mitochondrial diseases associated with point mutations in mitochondrial DNA, and includes mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, which can combined with endocrine ...
Diliara Sh. Umiarova, Tatiana A. Grebennikova, Tatiana S. Zenkova, Ekaterina L. Sorkina, Zhanna E. Belaya   +4 more
doaj   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source