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Wolfram syndrome: MAMs' connection?

Cell death & disease, 2018-03, Vol.9 (3), p.364-13, Article 364

2018

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Use of Zebrafish Models to Boost Research in Rare Genetic Diseases

International journal of molecular sciences, 2021-12, Vol.22 (24), p.13356

2021

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Sigma-1 Receptor Is Critical for Mitochondrial Activity and Unfolded Protein Response in Larval Zebrafish

International journal of molecular sciences, 2021-10, Vol.22 (20), p.11049

2021

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Defective Endoplasmic Reticulum–Mitochondria Connection Is a Hallmark of Wolfram Syndrome

Contact, 2019-01, Vol.2, p.251525641984740

2019

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Sigma-1 receptor agonist PRE-084 confers protection against TAR DNA-binding protein-43 toxicity through NRF2 signalling

Redox biology, 2022-12, Vol.58, p.102542, Article 102542

2022

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Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice

American journal of human genetics, 2008-08, Vol.83 (2), p.278-292

2008

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NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome

Molecular therapy. Methods & clinical development, 2022-12, Vol.27, p.295-308

2022

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Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing

The Journal of biological chemistry, 2011-05, Vol.286 (19), p.17383-17397

2011

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Editorial: Organelles Relationships and Interactions: A Cancer Perspective

Frontiers in cell and developmental biology, 2021-04, Vol.9, p.678307-678307

2021

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Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression

Human molecular genetics, 2013-04, Vol.22 (7), p.1289-1299

2013

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Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

Human molecular genetics, 2005-02, Vol.14 (3), p.401-410

2005

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FXYD6 Is a Novel Regulator of Na,K-ATPase Expressed in the Inner Ear

The Journal of biological chemistry, 2007-03, Vol.282 (10), p.7450-7456

2007

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Loss of Pde6a Induces Rod Outer Segment Shrinkage and Visual Alterations in pde6aQ70X Mutant Zebrafish, a Relevant Model of Retinal Dystrophy

Frontiers in cell and developmental biology, 2021-05, Vol.9, p.675517-675517

2021

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Calcium signaling and genetic rare diseases: An auditory perspective

Cell calcium (Edinburgh), 2023-03, Vol.110, p.102702-102702, Article 102702

2023

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Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1

eNeuro, 2016-11, Vol.3 (6), p.ENEURO.0295-16.2016-16.2016

2016

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Deafness and Cochlear Fibrocyte Alterations in Mice Deficient for the Inner Ear Protein Otospiralin

Molecular and Cellular Biology, 2005-01, Vol.25 (2), p.847-853

2005

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At the Crossing of ER Stress and MAMs: A Key Role of Sigma-1 Receptor?

Advances in experimental medicine and biology, 2020, Vol.1131, p.699-718

Islam, Shahidul

2020

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Dynamic expression of FXYD6 in the inner ear suggests a role of the protein in endolymph homeostasis and neuronal activity

Developmental dynamics, 2007-09, Vol.236 (9), p.2534-2540

2007

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Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models

Science translational medicine, 2022-02, Vol.14 (631), p.eabh3763

2022

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Sigma-1 (σ1) receptor activity is necessary for physiological brain plasticity in mice

European neuropsychopharmacology, 2020-10, Vol.39, p.29-45

2020

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The Wolfram-like variant WFS1E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice

Autophagy, 2024-04, p.1-12

2024

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Convolamine, a tropane alkaloid extracted from Convolvulus plauricalis, is a potent sigma‐1 receptor‐positive modulator with cognitive and neuroprotective properties

Phytotherapy research, 2024-02, Vol.38 (2), p.694-712

2024

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Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines

Human molecular genetics, 2022-08, Vol.31 (16), p.2711-2727

2022

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Loss of function of Ywhah in mice induces deafness and cochlear outer hair cell's degeneration

Cell death & disease, 2016-04, Vol.7 (4), p.e2187-e2187

2016

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Development of novel phenoxyalkylpiperidines as high-affinity Sigma-1 (σ1) receptor ligands with potent anti-amnesic effect

European journal of medicinal chemistry, 2022-01, Vol.228, p.114038, Article 114038

2022

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Wolfram syndrome: MAMs' connection?

Use of Zebrafish Models to Boost Research in Rare Genetic Diseases

Sigma-1 Receptor Is Critical for Mitochondrial Activity and Unfolded Protein Response in Larval Zebrafish

Defective Endoplasmic Reticulum–Mitochondria Connection Is a Hallmark of Wolfram Syndrome

Sigma-1 receptor agonist PRE-084 confers protection against TAR DNA-binding protein-43 toxicity through NRF2 signalling

Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice

NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome

Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing

Editorial: Organelles Relationships and Interactions: A Cancer Perspective

Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

FXYD6 Is a Novel Regulator of Na,K-ATPase Expressed in the Inner Ear

Loss of Pde6a Induces Rod Outer Segment Shrinkage and Visual Alterations in pde6aQ70X Mutant Zebrafish, a Relevant Model of Retinal Dystrophy

Calcium signaling and genetic rare diseases: An auditory perspective

Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1

Deafness and Cochlear Fibrocyte Alterations in Mice Deficient for the Inner Ear Protein Otospiralin

At the Crossing of ER Stress and MAMs: A Key Role of Sigma-1 Receptor?

Dynamic expression of FXYD6 in the inner ear suggests a role of the protein in endolymph homeostasis and neuronal activity

Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models

Sigma-1 (σ1) receptor activity is necessary for physiological brain plasticity in mice

The Wolfram-like variant WFS1E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice

Convolamine, a tropane alkaloid extracted from Convolvulus plauricalis, is a potent sigma‐1 receptor‐positive modulator with cognitive and neuroprotective properties

Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cell's degeneration

Development of novel phenoxyalkylpiperidines as high-affinity Sigma-1 (σ1) receptor ligands with potent anti-amnesic effect

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