Breaking the silence: gene therapy offers hope for OTOF-mediated hearing loss, editorial

被引：0

作者：

Hussain, Syed Ahmed Shahzaeem ^{[1
]}

Ali, Mohammad Haris ^{[2
]}

Imtiaz, Muhammad Hassan ^{[2
]}

Al Hasibuzzaman, Md. ^{[3
]}

机构：

[1] Shaikh Zayed Hosp, Dept ENT, Shaikh Zayed Med Complex, Lahore, Pakistan

[2] Shaikh Khalifa Bin Zayed Al Nahyan Med & Dent Coll, Lahore, Pakistan

[3] Univ Dhaka, Inst Nutr & Food Sci, Dhaka, Bangladesh

来源：

ANNALS OF MEDICINE AND SURGERY | 2024年 / 86卷 / 09期

关键词：

OTOFERLIN; FORM;

D O I：

10.1097/MS9.0000000000002360

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：4950 / 4951

页数：2

共 12 条

[1] Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model [J].

Akil, Omar ;

Dyka, Frank ;

Calvet, Charlotte ;

Emptoz, Alice ;

Lahlou, Ghizlene ;

Nouaille, Sylvie ;

de Monvel, Jacques Boutet ;

Hardelin, Jean-Pierre ;

Hauswirth, William W. ;

Avan, Paul ;

Petit, Christine ;

Safieddine, Saaid ;

Lustig, Lawrence R. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2019, 116 (10) :4496-4501

[2] A dual-AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock-out mice [J].

Al-Moyed, Hanan ;

Cepeda, Andreia P. ;

Jung, SangYong ;

Moser, Tobias ;

Kuegler, Sebastian ;

Reisinger, Ellen .

EMBO MOLECULAR MEDICINE, 2019, 11 (01)

[3]

James SL, 2018, LANCET, V392, P1789, DOI [10.1016/s0140-6736(18)32335-3, 10.1016/S0140-6736(18)32335-3]

[4]

Lv J, 2024, LANCET, V403, P2317, DOI 10.1016/S0140-6736(23)02874-X

[5] New treatment options for hearing loss [J].

Mueller, Ulrich ;

Barr-Gillespie, Peter G. .

NATURE REVIEWS DRUG DISCOVERY, 2015, 14 (05) :346-U84

[6] A Multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy [J].

Rodriguez-Ballesteros, Montserrat ;

Reynoso, Raul ;

Olarte, Margarita ;

Villamar, Manuela ;

Morera, Constantino ;

Santarelli, Rosamaria ;

Arslan, Edoardo ;

Meda, Carme ;

Curet, Carlos ;

Voelter, Christiane ;

Sainz-Quevedo, Manuel ;

Castorina, Pierangela ;

Ambrosetti, Umberto ;

Berrettini, Stefano ;

Frei, Klemens ;

Tedin, Socorro ;

Smith, Janine ;

Cruz Tapia, M. ;

Cavalle, Laura ;

Gelvez, Nancy ;

Primignani, Paola ;

Gomez-Rosas, Elena ;

Martin, Mirta ;

Moreno-Pelayo, Miguel A. ;

Tamayo, Martalucia ;

Moreno-Barral, Jose ;

Moreno, Felipe ;

del Castillo, Ignacio .

HUMAN MUTATION, 2008, 29 (06) :823-831

[7] Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse [J].

Roux, Isabelle ;

Safieddine, Saaid ;

Nouvian, Regis ;

Grati, M'hamed ;

Simmler, Marie-Christine ;

Bahloul, Isabelle ;

Perfettini, Isabelle ;

Le Gall, Morgane ;

Rostaing, Philippe ;

Hamard, Ghislaine ;

Triller, Antoine ;

Avan, Paul ;

Moser, Tobias ;

Petit, Christine .

CELL, 2006, 127 (02) :277-289

[8] The Epidemiology of Deafness [J].

Sheffield, Abraham M. ;

Smith, Richard J. H. .

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2019, 9 (09)

[9] Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss [J].

Sloan-Heggen, Christina M. ;

Bierer, Amanda O. ;

Shearer, A. Eliot ;

Kolbe, Diana L. ;

Nishimura, Carla J. ;

Frees, Kathy L. ;

Ephraim, Sean S. ;

Shibata, Seiji B. ;

Booth, Kevin T. ;

Campbell, Colleen A. ;

Ranum, Paul T. ;

Weaver, Amy E. ;

Black-Ziegelbein, E. Ann ;

Wang, Donghong ;

Azaiez, Hela ;

Smith, Richard J. H. .

HUMAN GENETICS, 2016, 135 (04) :441-450

[10] Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin [J].

Tang, Honghai ;

Wang, Hui ;

Wang, Shengyi ;

Hu, Shao Wei ;

Lv, Jun ;

Xun, Mengzhao ;

Gao, Kaiyu ;

Wang, Fang ;

Chen, Yuxin ;

Wang, Daqi ;

Wang, Wuqing ;

Li, Huawei ;

Shu, Yilai .

HUMAN GENETICS, 2023, 142 (02) :289-304

← 1 2 →