Results 61 to 70 of about 198,562 (263)

A case report of Usher's syndrome with psychosis: Challenges in diagnosis and management

Journal of Mental Health and Human Behaviour, 2017
Usher's syndrome is a heterogeneous autosomal recessive disorder characterized by dual sensory impairment in the form of profound congenital hearing loss and progressive visual loss due to retinal degeneration.
Akriti Kamran, Deeksha Elwadhi, Rosali Bhoi, Mahima Malhotra   +3 more
doaj   +1 more source

Heat shock induces rapid resorption of primary cilia [PDF]

, 2012
Primary cilia are involved in important developmental and disease pathways, such as the regulation of neurogenesis and tumorigenesis. They function as sensory antennae and are essential in the regulation of key extracellular signalling systems.
Anckar, Baker, Berbari, Boyault, Breunig, Caspary, Corbit, Cotto, Davenport, Fliegauf, Gherman, Han, Haycraft, Kültz, Lange, McGlashan, Meimaridou, Nauli, Ng, Nigg, Overgaard, Pedersen, Pugacheva, Quarmby, Rohatgi, Rosenbaum, Schneider, Seeley, Singla, Taipale, Takaki, Weis, Williams   +32 more
core   +1 more source

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

FEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva, Ariann E. Mendoza‐Martínez, P. Abril Medina‐Flores, Carlos Campero‐Basaldua, Alexander DeLuna, Soledad Funes   +5 more
wiley   +1 more source

Audiological phenotype of siblings with dual sensory impairment caused by SLITRK6 mutation—case report

The Egyptian Journal of Otolaryngology
Background Dual sensory impairment (DSI), defined as concomitant hearing and vision loss, is a rare but clinically significant condition. While genetic factors account for the majority of congenital sensory impairments, dual impairment syndromes are less
Swapna Sebastian, Paul Jasper, Manju Deena Mammen, Ann Mary Augustine   +3 more
doaj   +1 more source

Combined Vision and Hearing Impairment is Associated with Frailty in Older Adults: Results from the West China Health and Aging Trend Study

Clinical Interventions in Aging, 2022
Yanli Zhao, Qunfang Ding, Taiping Lin, Xiaoyu Shu, Dongmei Xie, Langli Gao, Jirong Yue Department of Geriatrics and National Clinical Research Center for Geriatrics, West China Hospital of Sichuan University, Chengdu, 610041, People’s Republic of ...
Zhao Y, Ding Q, Lin T, Shu X, Xie D, Gao L, Yue J   +6 more
doaj  

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

EMBO Molecular Medicine, 2023
Deafness affects 5% of the world's population, yet there is a lack of treatments to prevent hearing loss due to genetic causes. Norrie disease is a recessive X‐linked disorder, caused by NDP gene mutation.
Valda Pauzuolyte, Aara Patel, James R Wawrzynski, Neil J Ingham, Yeh Chwan Leong, Rajvinder Karda, Maria Bitner‐Glindzicz, Wolfgang Berger, Simon N Waddington, Karen P Steel, Jane C Sowden   +10 more
doaj   +1 more source

A methionine‐lined active site governs carbocation stabilization and product specificity in a bacterial terpene synthase

FEBS Letters, EarlyView.
This study reveals a unique active site enriched in methionine residues and demonstrates that these residues play a critical role by stabilizing carbocation intermediates through novel sulfur–cation interactions. Structure‐guided mutagenesis further revealed variants with significantly altered product profiles, enhancing pseudopterosin formation. These
Marion Ringel, Carl P. O. Helmer, Shani Zev, Ronja Driller, Emily Buhr, Markus Reinbold, Renana Schwartz, Gabriel Foley, Mikael Boden, Daniel Garbe, Gerhard Schenk, Dan Thomas Major, Bernhard Loll, Thomas Brück   +13 more
wiley   +1 more source

Impact of dual sensory impairment on cognition in older Chinese adults: a moderated chain-mediated effect

Frontiers in Public Health
ObjectiveAlthough sensory impairment has been identified as a risk factor for cognitive decline, little is known about the underlying mechanisms that connect dual sensory impairment to cognitive ability.
Qingyun Mao, Qingyun Mao, Heting Liang, Xiaoli Yuan, Zhixia Jiang, Rujun Hu, Yumeng Zhang, Shuang Li, Xiaoling Yang   +8 more
doaj   +1 more source