Homozygous Mutations in <i>GDAP1</i> and <i>MFN2</i> Genes Resulted in Autosomal Recessive Forms of Charcot–Marie–Tooth Disease in Consanguineous Pakistani Families-Reference-Cited by-同舟云学术

Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot–Marie–Tooth Disease in Consanguineous Pakistani Families

Published:2023-11-01 Issue:11 Volume:42 Page:697-708
ISSN:1044-5498
Container-title:DNA and Cell Biology
language:en
Short-container-title:DNA and Cell Biology

Author:

Asif Muhammad¹²,Chiou Chien-Chun³,Hussain Malik Fiaz²,Hussain Manzoor⁴,Sajid Zureesha¹⁵,Gulsher Muhammad⁶,Raheem Afifa²,Khan Adil⁷,Nasreen Nasreen⁸,Kloczkowski Andrzej⁹¹⁰,Hassan Mubashir⁹,Iqbal Furhan²^ORCID,Chen Chien-Chin¹¹¹²¹³¹⁴

Affiliation:

1. Institute of Molecular Biology and Biotechnology. Bahauddin Zakariya University, Multan, Pakistan.

2. Institute of Zoology, Bahauddin Zakariya University, Multan, Pakistan.

3. Department of Dermatology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan.

4. Orthopedic Unit 1, Nishter Medical University Multan, Pakistan.

5. Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, Baghdad-ul-Jadeed Campus, The Islamia University of Bahawalpur, Bahawalpur, Pakistan.

6. Children Hospital and Institute of Child Health, Multan, Pakistan.

7. Department of Botany and Zoology, Bacha Khan University, Charsadda, Pakistan.

8. Department of Zoology, Abdul Wali Khan University, Mardan, Pakistan.

9. The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.

10. Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.

11. Department of Pathology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan.

12. Department of Cosmetic Science, Chia Nan University of Pharmacy and Science, Tainan, Taiwan.

13. Ph.D. Program in Translational Medicine, Rong Hsing Research Center for Translational Medicine, National Chung Hsing University, Taichung, Taiwan.

14. Department of Biotechnology and Bioindustry Sciences, College of Bioscience and Biotechnology, National Cheng Kung University, Tainan, Taiwan.

Publisher

Mary Ann Liebert Inc

Subject

Cell Biology,Genetics,Molecular Biology,General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/dna.2023.0169

Reference38 articles.

1. Mitochondrial fusion and function in Charcot–Marie–Tooth type 2A patient fibroblasts with mitofusin 2 mutations

2. Kinematic Vibrational Entropy Assessment and Analysis of SARS CoV-2 Main Protease

3. Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse model

4. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

5. ENCoM server: exploring protein conformational space and the effect of mutations on protein function and stability