Results 51 to 60 of about 91,474 (255)

SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1

FEBS Open Bio, EarlyView.
Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl, Khawar Amin, Lydia Gabriel, Nils Hampel, Afshin Iram, Julia Hesse, Constanze Wiek, Jasmin Thuy Vy Nguyen, Helmut Hanenberg, Jürgen Scheller, M. Reza Ahmadian, Björn Stork, Doreen M. Floss, Roland P. Piekorz   +13 more
wiley   +1 more source

STRUCTURE OF CONGENITAL AND HEREDITARY EYE DISEASES IN CHILDREN AND MEASURES OF ITS PREVENTION

Ukrainian Scientific Medical Youth Journal, 2016
Hereditary and congenital eye disease compose 60% to 90% of all causes of disability due to reduced visual acuity in children. The treatment is ineffective and prevention methods requires significant improvement. The purpose of the study was to determine
A. Savina, O. Vitovska
doaj  

Metformin promotes mitochondrial integrity through AMPK‐signaling in Leber's hereditary optic neuropathy

FEBS Open Bio, EarlyView.
Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid, Rapasviranda Soiyangsuk, Maneeluck Tanadjindarat, Chayanon Peerapittayamongkol   +3 more
wiley   +1 more source

Orbital adipose tissue

Офтальмохирургия, 2016
We summarized the results of Russian and foreign researches elucidating embryogenesis, topography and anatomy of different orbital fat pads. It is interesting that adipose tissue from different surgical adipose spaces do not stem from the same germ ...
S. A. Borzenok, M. B. Gushchina, D. S. Afanasyeva, G. A. Shilkin   +3 more
doaj   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli, Adams, Amyot, Barbeau, Bosch, Bray, Campanella, Cohen, Cox, Coërs, Croft, Direkze, Dutil, Fried, Fuchs, Goto, Graef von, Graf, Hartmann, Hayes, Julien, Kearns, Kiloh, Krause, Lakin, Lees, Lewis, Liversedge, Lundberg, Man, Maningand, Mater, Matsunaga, Murphy, Myrianthopoulos, Nicolaissen, Peterman, Radu, Rebeiz, Roberts, Satoyoshi, Saucier, Schmitt, Schmitt, Schotland, Schwarz, Szobar, Taylor, Victor, Zellweger   +49 more
core   +1 more source

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

The Cone Dysfunction Syndromes [PDF]

, 2016
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision, and varying degrees of colour vision abnormalities, nystagmus and photophobia.
Aboshiha, J, Carroll, J, Dubis, AM, Harcastle, AJ, Michaelides, M   +4 more
core  

Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mouse model of hereditary hemochromatosis [PDF]

, 2018
Osteoporosis is associated with chronic iron overload secondary to hereditary hemochromatosis (HH), but the causative mechanisms are incompletely understood.
Camacho, António, Cancela, M. Leonor, Cohen-Solal, Martine, Hang Korng, Ea, Ostertag, Agnès, Pinto, I. Jorge, Porto, Graça, Simão, Márcio   +7 more
core   +4 more sources

Network Localization of Fatigue in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo, Jaakko Kungshamn, Albert Bellmunt‐Gil, Silvia Tommasin, Abhineet Ojha, Matias Viitala, Juho Aaltonen, Jyrki Lötjönen, Juha Koikkalainen, Pauli Ylikotila, Patrizia Pantano, Merja Soilu‐Hänninen, Juho Joutsa   +12 more
wiley   +1 more source

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature

Journal of Medical Case Reports, 2023
Background Congenital ectopia lentis is characterized by dislocation of the lens caused by partial or complete abnormalities in the zonular fibers. It can be caused by either systemic diseases or isolated ocular diseases.
Hengguang Wei, Xuyun Meng, Huali Qin, Xia Li   +3 more
doaj   +1 more source