| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Zhongzheng Li, Sen Zeng, Yongzhi Xie, Xiaobo Li, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Lei Liu, Mengli Wang, Qiaoyu Gong, Jun Liu, Pengfei Rong, Ruxu Zhan. Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation. Journal of the peripheral nervous system : JPNS. 2024-05-05. PMID:38705839. |
mutations in ganglioside-induced differentiation-associated protein 1 (gdap1) cause axonal or demyelinating charcot-marie-tooth disease (cmt) with autosomal dominant or recessive inheritance. |
2024-05-05 |
2024-05-08 |
Not clear |
| Uzma Manzoor, Awais Ali, S Luqman Ali, Omneya Abdelkarem, Sumaira Kanwal, Saqer S Alotaibi, Alaa Baazeem, Aliya Baiduissenova, Ayaz Yktiyarov, Azraida Hajar, Abay Olzhaba. Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects. Journal, genetic engineering & biotechnology. vol 21. issue 1. 2023-11-15. PMID:37966693. |
mutational screening of gdap1 in dysphonia associated with charcot-marie-tooth disease: clinical insights and phenotypic effects. |
2023-11-15 |
2023-11-20 |
Not clear |
| Uzma Manzoor, Awais Ali, S Luqman Ali, Omneya Abdelkarem, Sumaira Kanwal, Saqer S Alotaibi, Alaa Baazeem, Aliya Baiduissenova, Ayaz Yktiyarov, Azraida Hajar, Abay Olzhaba. Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects. Journal, genetic engineering & biotechnology. vol 21. issue 1. 2023-11-15. PMID:37966693. |
mutations in gdap1 (ganglioside-induced differentiation-associated protein 1) gene are linked to charcot-marie-tooth disease (cmt), a heterogenous group of disorders with multiple phenotypes, characterized by peripheral nerve dysfunction that can lead to vocal cord paralysis and diaphragmatic dysfunction. |
2023-11-15 |
2023-11-20 |
Not clear |
| Aleksi Sutinen, Nykola C Jones, Søren Vrønning Hoffmann, Salla Ruskamo, Petri Kursul. Conformational analysis of membrane-proximal segments of GDAP1 in a lipidic environment using synchrotron radiation suggests a mode of assembly at the mitochondrial outer membrane. Biophysical chemistry. vol 303. 2023-10-01. PMID:37778197. |
missense mutations in the gdap1 gene are linked to the most common human peripheral neuropathy, charcot-marie-tooth disease (cmt). |
2023-10-01 |
2023-10-07 |
human |
| Aleksi Sutinen, Dirk Paffenholz, Giang Thi Tuyet Nguyen, Salla Ruskamo, Andrew E Torda, Petri Kursul. Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability. PloS one. vol 18. issue 4. 2023-04-14. PMID:37058526. |
charcot-marie-tooth disease (cmt) is the most common inherited peripheral polyneuropathy in humans, and its subtypes are linked to mutations in dozens of different genes, including the gene coding for ganglioside-induced differentiation-associated protein 1 (gdap1). |
2023-04-14 |
2023-08-14 |
Not clear |
| Nivedita U Jerat. Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants. Case reports in medicine. vol 2022. 2022-06-03. PMID:35656516. |
this study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous gdap1 variant causing charcot-marie-tooth disease 2k (cmt2k) and one additional subject with an uncertain gdap1 variant and clinical findings of cmt 2k. |
2022-06-03 |
2023-08-14 |
human |
| Nivedita U Jerat. Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants. Case reports in medicine. vol 2022. 2022-06-03. PMID:35656516. |
this study suggests that gdap1 variants may be associated with very mild, predominantly sensory charcot-marie-tooth disease, warranting continuing research for this type of the disease. |
2022-06-03 |
2023-08-14 |
human |
| Catarina Correia Rodrigues, Miguel Oliveira Santo. An axonal Charcot-Marie-Tooth disease associated with a homozygous GDAP1 gene mutation in two siblings from Bangladesh: a less severe phenotype. Acta neurologica Belgica. 2022-03-22. PMID:35316520. |
an axonal charcot-marie-tooth disease associated with a homozygous gdap1 gene mutation in two siblings from bangladesh: a less severe phenotype. |
2022-03-22 |
2023-08-13 |
Not clear |
| Cong-Xin Chen, Jia-Qi Li, Hai-Lin Dong, Gong-Lu Liu, Ge Bai, Zhi-Ying W. Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease. Annals of clinical and translational neurology. vol 7. issue 12. 2021-11-01. PMID:33136338. |
identification and functional characterization of novel gdap1 variants in chinese patients with charcot-marie-tooth disease. |
2021-11-01 |
2023-08-13 |
Not clear |
| Ana Ortiz-Santiago, Edwardo Ramo. Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report. Journal of pediatric rehabilitation medicine. vol 14. issue 3. 2021-10-28. PMID:34057104. |
childhood onset homozygous recessive gdap1 (p.pro231leu) mutation in a 9-year-old puerto rican pediatric female with axonal charcot-marie-tooth disease: a case report. |
2021-10-28 |
2023-08-13 |
Not clear |
| Fernanda Barbosa Figueiredo, Wilson Araújo Silva, Silvana Giuliatti, Pedro José Tomaselli, Charles Marques Lourenço, Silmara de Paula Gouvêa, Anna Paula Paranhos Miranda Covaleski, Jaime E Hallak, Wilson Marque. GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease. Neuromuscular disorders : NMD. vol 31. issue 6. 2021-08-18. PMID:33903021. |
gdap1 mutations are frequent among brazilian patients with autosomal recessive axonal charcot-marie-tooth disease. |
2021-08-18 |
2023-08-13 |
Not clear |
| Matthew R Googins, Aigbirhemwen O Woghiren-Afegbua, Michael Calderon, Claudette M St Croix, Kirill I Kiselyov, Andrew P VanDemar. Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 34. issue 5. 2021-01-27. PMID:32274853. |
mutations in ganglioside-induced differentiation-associated protein 1 (gdap1) alter mitochondrial morphology and result in several subtypes of the inherited peripheral neuropathy charcot-marie-tooth disease; however, the mechanism by which gdap1 functions has remained elusive. |
2021-01-27 |
2023-08-13 |
Not clear |
| Sara Fernandez-Lizarbe, Azahara Civera-Tregón, Lara Cantarero, Isabel Herrer, Paula Juarez, Janet Hoenicka, Francesc Pala. Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1. Experimental neurology. vol 320. 2020-03-03. PMID:31271761. |
neuroinflammation in the pathogenesis of axonal charcot-marie-tooth disease caused by lack of gdap1. |
2020-03-03 |
2023-08-13 |
Not clear |
| C Anghelescu, B Francou, R Cardas, A Guiochon-Mantel, P Aubourg, L Servais, T Gidar. Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype. European journal of neurology. vol 24. issue 3. 2019-11-20. PMID:28211244. |
targeted exomes reveal simultaneous mfn2 and gdap1 mutations in a severe charcot-marie-tooth disease type 2 phenotype. |
2019-11-20 |
2023-08-13 |
Not clear |
| Rafael Sivera, Marina Frasquet, Vincenzo Lupo, Tania García-Sobrino, Patricia Blanco-Arias, Julio Pardo, Roberto Fernández-Torrón, Adolfo López de Munain, Celedonio Márquez-Infante, Liliana Villarreal, Pilar Carbonell, Ricard Rojas-García, Sonia Segovia, Isabel Illa, Anna Lia Frongia, Andrés Nascimento, Carlos Ortez, María Del Mar García-Romero, Samuel Ignacio Pascual, Ana Lara Pelayo-Negro, José Berciano, Antonio Guerrero, Carlos Casasnovas, Ana Camacho, Jesús Esteban, María José Chumillas, Marisa Barreiro, Carmen Díaz, Francesc Palau, Juan Jesús Vílchez, Carmen Espinós, Teresa Sevill. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain. Scientific reports. vol 7. issue 1. 2019-05-01. PMID:28751717. |
mutations in the gdap1 gene can cause charcot-marie-tooth disease. |
2019-05-01 |
2023-08-13 |
Not clear |
| Weronika Rzepnikowska, Andrzej Kochańsk. A role for the GDAP1 gene in the molecular pathogenesis of Charcot‑Marie‑Tooth disease. Acta neurobiologiae experimentalis. vol 78. issue 1. 2018-09-18. PMID:29694336. |
additionally, despite gdap1 affecting mitochondrial functionality, and hence being of great importance to cellular function, the gdap1‑associated charcot-marie-tooth disease is mainly characterized by axonal degeneration. |
2018-09-18 |
2023-08-13 |
Not clear |
| Nina Huber, Christoph Bieniossek, Konstanze Marion Wagner, Hans-Peter Elsässer, Ueli Suter, Imre Berger, Axel Nieman. Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain. Scientific reports. vol 6. 2018-06-13. PMID:27841286. |
mutations in the ganglioside-induced differentiation associated protein 1 (gdap1) cause severe peripheral motor and sensory neuropathies called charcot-marie-tooth disease. |
2018-06-13 |
2023-08-13 |
Not clear |
| A Yoshimura, J-H Yuan, A Hashiguchi, Y Hiramatsu, M Ando, Y Higuchi, T Nakamura, Y Okamoto, K Matsumura, T Hamano, N Sawaura, Y Shimatani, S Kumada, Y Okumura, J Miyahara, Y Yamaguchi, S Kitamura, K Haginoya, J Mitsui, H Ishiura, S Tsuji, H Takashim. Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. Clinical genetics. vol 92. issue 3. 2018-04-30. PMID:28244113. |
clinical and mutational spectrum of japanese patients with charcot-marie-tooth disease caused by gdap1 variants. |
2018-04-30 |
2023-08-13 |
Not clear |
| A Yoshimura, J-H Yuan, A Hashiguchi, Y Hiramatsu, M Ando, Y Higuchi, T Nakamura, Y Okamoto, K Matsumura, T Hamano, N Sawaura, Y Shimatani, S Kumada, Y Okumura, J Miyahara, Y Yamaguchi, S Kitamura, K Haginoya, J Mitsui, H Ishiura, S Tsuji, H Takashim. Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. Clinical genetics. vol 92. issue 3. 2018-04-30. PMID:28244113. |
mutations in gdap1 are responsible for heterogeneous clinical and electrophysiological phenotypes of charcot-marie-tooth disease (cmt), with autosomal dominant or recessive inheritance pattern. |
2018-04-30 |
2023-08-13 |
Not clear |
| Jun Fu, Shixu Dai, Yuanyuan Lu, Rui Wu, Zhaoxia Wang, Yun Yuan, He L. Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K. Neuromuscular disorders : NMD. vol 27. issue 8. 2018-04-09. PMID:28495047. |
mutations in the ganglioside-induced differentiation-associated protein 1 gene (gdap1) cause rare subtypes of charcot-marie-tooth disease (cmt2k and cmt4a). |
2018-04-09 |
2023-08-13 |
Not clear |