Anoctamins/TMEM16 proteins: chloride channels flirting with lipids and extracellular vesicles
JM Whitlock, HC Hartzell - Annual review of physiology, 2017 - annualreviews.org
Anoctamin (ANO)/TMEM16 proteins exhibit diverse functions in cells throughout the body
and are implicated in several human diseases. Although the founding members ANO1 …
and are implicated in several human diseases. Although the founding members ANO1 …
Auditory neuropathy spectrum disorders: from diagnosis to treatment: literature review and case reports
RD De Siati, F Rosenzweig, G Gersdorff… - Journal of clinical …, 2020 - mdpi.com
Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments
characterized by deteriorated speech perception, despite relatively preserved pure-tone …
characterized by deteriorated speech perception, despite relatively preserved pure-tone …
Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses
N Michalski, JD Goutman, SM Auclair… - Elife, 2017 - elifesciences.org
Hearing relies on rapid, temporally precise, and sustained neurotransmitter release at the
ribbon synapses of sensory cells, the inner hair cells (IHCs). This process requires otoferlin …
ribbon synapses of sensory cells, the inner hair cells (IHCs). This process requires otoferlin …
AAV. Dysferlin overlap vectors restore function in dysferlinopathy animal models
PC Sondergaard, DA Griffin, ER Pozsgai… - Annals of clinical …, 2015 - Wiley Online Library
Objective Dysferlinopathies are a family of untreatable muscle disorders caused by
mutations in the dysferlin gene. Lack of dysferlin protein results in progressive dystrophy …
mutations in the dysferlin gene. Lack of dysferlin protein results in progressive dystrophy …
Cellular and molecular interactions of phosphoinositides and peripheral proteins
RV Stahelin, JL Scott, CT Frick - Chemistry and physics of lipids, 2014 - Elsevier
Anionic lipids act as signals for the recruitment of proteins containing cationic clusters to
biological membranes. A family of anionic lipids known as the phosphoinositides (PIPs) are …
biological membranes. A family of anionic lipids known as the phosphoinositides (PIPs) are …
[HTML][HTML] ANO5 ensures trafficking of annexins in wounded myofibers
SJ Foltz, YY Cui, HJ Choo, H Hartzell - Journal of Cell Biology, 2021 - rupress.org
Mutations in ANO5 (TMEM16E) cause limb-girdle muscular dystrophy R12. Defective
plasma membrane repair is a likely mechanism. Using myofibers from Ano5 knockout mice …
plasma membrane repair is a likely mechanism. Using myofibers from Ano5 knockout mice …
Functions of vertebrate ferlins
AV Bulankina, S Thoms - Cells, 2020 - mdpi.com
Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics
within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six …
within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six …
Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies
Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as
dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in …
dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in …
[HTML][HTML] Rapid actin-cytoskeleton–dependent recruitment of plasma membrane–derived dysferlin at wounds is critical for muscle membrane repair
JR McDade, A Archambeau, DE Michele - The FASEB Journal, 2014 - ncbi.nlm.nih.gov
Deficits in membrane repair may contribute to disease progression in dysferlin-deficient
muscular dystrophy. Dysferlin, a type-II transmembrane phospholipid-binding protein, is …
muscular dystrophy. Dysferlin, a type-II transmembrane phospholipid-binding protein, is …