[HTML][HTML] βII spectrin (SPTBN1): biological function and clinical potential in cancer and other diseases

P Yang, Y Yang, P Sun, Y Tian, F Gao… - … journal of biological …, 2021 - ncbi.nlm.nih.gov
Abstract βII spectrin, the most common isoform of non-erythrocyte spectrin, is a cytoskeleton
protein present in all nucleated cells. Interestingly, βII spectrin is essential for the …

Spectrins: molecular organizers and targets of neurological disorders

DN Lorenzo, RJ Edwards, AL Slavutsky - Nature Reviews …, 2023 - nature.com
Spectrins are cytoskeletal proteins that are expressed ubiquitously in the mammalian
nervous system. Pathogenic variants in SPTAN1, SPTBN1, SPTBN2 and SPTBN4, four of …

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

N Trpchevska, MB Freidin, L Broer… - The American Journal of …, 2022 - cell.com
Hearing loss is one of the top contributors to years lived with disability and is a risk factor for
dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing …

GWAS identifies 44 independent associated genomic loci for self-reported adult hearing difficulty in UK Biobank

HRR Wells, MB Freidin, FNZ Abidin, A Payton… - The American Journal of …, 2019 - cell.com
Age-related hearing impairment (ARHI) is the most common sensory impairment in the
aging population; a third of individuals are affected by disabling hearing loss by the age of …

Deficiency of Klc2 induces low-frequency sensorineural hearing loss in C57BL/6 J mice and human

X Fu, Y An, H Wang, P Li, J Lin, J Yuan, R Yue… - Molecular …, 2021 - Springer
The transport system in cochlear hair cells (HCs) is important for their function, and the
kinesin family of proteins transports numerous cellular cargos via the microtubule network in …

Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome

S Huang, J Song, C He, X Cai, K Yuan, L Mei, Y Feng - Gene therapy, 2022 - nature.com
Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most
common cause of syndromic hearing loss (HL), which accounts for approximately 2–5% of …

A critical period of prehearing spontaneous Ca2+ spiking is required for hair‐bundle maintenance in inner hair cells

AJ Carlton, JY Jeng, FC Grandi, F De Faveri… - The EMBO …, 2023 - embopress.org
Sensory‐independent Ca2+ spiking regulates the development of mammalian sensory
systems. In the immature cochlea, inner hair cells (IHCs) fire spontaneous Ca2+ action …

Cisplatin‐Induced Stria Vascularis Damage Is Associated with Inflammation and Fibrosis

N Zhang, J Cai, L Xu, H Wang, W Liu - Neural Plasticity, 2020 - Wiley Online Library
The stria vascularis (SV) generates the endocochlear potential (EP) in the inner ear and is
necessary for proper hair cell (HC) mechanotransduction and hearing. Cell junctions are …

Noise‐induced hearing loss: updates on molecular targets and potential interventions

H Mao, Y Chen - Neural Plasticity, 2021 - Wiley Online Library
Noise overexposure leads to hair cell loss, synaptic ribbon reduction, and auditory nerve
deterioration, resulting in transient or permanent hearing loss depending on the exposure …

[HTML][HTML] Trehalose protects against cisplatin-induced cochlear hair cell damage by activating TFEB-mediated autophagy

Z Li, Q Yao, Y Tian, Y Jiang, M Xu, H Wang… - Biochemical …, 2022 - Elsevier
Cisplatin is a widely used chemotherapeutic agent for the treatment of various tumors, but its
side effects limit its application. Ototoxicity, a major adverse effect of cisplatin, causes …