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Last update 08 May 2025

SANS

Last update 08 May 2025

Basic Info

Synonyms

ANKS4A, FLJ33924, pre-mRNA splicing regulator USH1G

+ [5]

Introduction

Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of the pre-catalytic spliceosome on target pre-mRNAs (PubMed:34023904). May also participate in recycling of snRNPs back to Cajal bodies during splicing (PubMed:34023904). Plays a role in regulating MAGI2-mediated endocytosis (PubMed:24608321). Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles. Required for normal hearing.

Drugs associated with SANS

AAV8-USH1G gene therapy (Institut Pasteur/ INSERM/ CNRS/ Universite Pierre et Marie Curie/ Sensorion)

Target

SANS

Mechanism

SANS modulators [+1]

Active Org.

Institut Pasteur de Lille [+4]

Originator Org.

Institut Pasteur de Lille

Active Indication

Usher Syndromes

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Usher-GT

Target

SANS

Mechanism

SANS modulators

Active Org.-

Originator Org.

Sensorion SA

Active Indication-

Inactive Indication

Usher Syndromes

Drug Highest PhaseDiscontinued

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with SANS

100 Translational Medicine associated with SANS

0 Patents (Medical) associated with SANS

Literatures (Medical) associated with SANS

01 Jan 2025·Advances in Experimental Medicine and Biology

Identification of Unexpected Pathomechanisms Underlying the Human Usher Syndrome

Review

Author: Güler, Baran E ; Wenck, Nicole ; Linnert, Joshua ; Wolfrum, Uwe ; Nagel-Wolfrum, Kerstin ; Klein, Joshua ; Fritze, Jacques S

Human Usher syndrome (USH) is the most common form of hereditary deaf-blindness, characterized by inner ear defects and late-onset vision loss. USH is a complex genetic disorder, clinically and genetically heterogeneous. To date, there is no treatment for the ocular phenotype of any USH subtype, as the underlying pathomechanisms of the disease in the eye are far from being understood. We aim to elucidate the function of USH proteins to gain insight into the pathomechanisms leading to the retinal phenotype in USH. Here, we focus on the USH1 proteins SANS (USH1G) and harmonin (USH1C), and the USH2C protein ADGRV1. Results from affinity capture approaches revealed putative interacting proteins to these USH proteins, indicative of diverse various unexpected molecular pathways and modules. Functional studies in both cellular and animal models confirmed the roles of SANS in the pre-mRNA splicing of other retinal genes, especially USH genes and harmonin as a suppressor of the canonical Wnt signaling. Additionally, ADGRV1 showed characteristics of a metabotropic mechanoreceptor regulating cell adhesions, Ca²⁺ homeostasis of the cell, and autophagy. The dysfunction of these pathways and processes may contribute to the development of USH and are novel potential targets for future therapies.

01 Nov 2024·Heliyon

The interaction of a self-assembled nanoparticle and a lipid membrane: Binding, disassembly and re-distribution

Article

Author: Milanesi, Lilia ; Tomas, Salvador

Here we report a detailed study of the interactions of nanoparticles, formed by the self-assembly of cholesterol-containing porphyrins, with lipid membranes. We show that the interaction is a two-step process: first, the docking and fusion, then, the redistribution of the building blocks of the self-assembled nanoparticles (SANs henceforth). Analysis of the binding and structural data is consistent with the docking step being driven by a multivalence cooperative effect and with the formation of SAN aggregates on the membrane, whilst the solubility of the cholesterol anchor in the membrane is key to both the fusion and redistribution of the SANs building blocks. The tendency of the SAN to aggregate in the membrane helps explain the photosensitizer properties of the SANs, essential to their anti-microbial activity. The solubility of the cholesteryl anchors drives fusion to the membrane and de-assembly of the SAN, explaining the capability of the SANs to deliver therapeutic cargos at the lipid interface. The subsequent redistribution of the SANs building blocks offer a plausible pathway to body clearance that is not immediately available to hard nanoparticles. These properties, and the modularity of the synthesis, point to the SANs being an excellent platform for the development of nanomedicines. An unexpected consequence of unraveling the mechanism of membrane interaction of these SANs is that it allows us to derive a value of the free energy of binding of cholesterol (the membrane anchor of the SAN building blocks) to a lipid membrane, that is consistent with the literature values. This is an additional property that can be exploited to determine the affinity of a variety of membrane anchors to membranes of various compositions.

08 Feb 2024·JCI Insight

Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model

Article

Author: Michel, Vincent ; Petit, Christine ; Safieddine, Saaid ; Calvet, Charlotte ; Lecomte, Marie-José ; Alciato, Lauranne ; Plion, Baptiste ; Boutet de Monvel, Jacques ; Lahlou, Ghizlene ; Simon, François ; Beraneck, Mathieu

Neonatal gene therapy has been shown to prevent inner ear dysfunction in mouse models of Usher syndrome type I (USH1), the most common genetic cause of combined deafness-blindness and vestibular dysfunction. However, hearing onset occurs after birth in mice and in utero in humans, making it questionable how to transpose murine gene therapy outcomes to clinical settings. Here, we sought to extend the therapeutic time window in a mouse model for USH1G to periods corresponding to human neonatal stages, more suitable for intervention in patients. Mice with deletion of Ush1g (Ush1g-/-) were subjected to gene therapy after the hearing onset. The rescue of inner ear hair cell structure was evaluated by confocal imaging and electron microscopy. Hearing and vestibular function were assessed by recordings of the auditory brain stem response and vestibulo-ocular reflex and by locomotor tests. Up to P21, gene therapy significantly restored both the hearing and balance deficits in Ush1g-/- mice. However, beyond this age and up to P30, vestibular function was restored but not hearing. Our data show that effective gene therapy is possible in Ush1g-/- mice well beyond neonatal stages, implying that the therapeutic window for USH1G may be wide enough to be transposable to newborn humans.

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