| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Tania García-Sobrino, Patricia Blanco-Arias, Francesc Palau, Carmen Espinós, Laura Ramirez, Anna Estela, Beatriz San Millán, Manuel Arias, María-Jesús Sobrido, Julio Pard. Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease. Neuromuscular disorders : NMD. vol 27. issue 7. 2018-03-16. PMID:28236508. |
phenotypical features of a new dominant gdap1 pathogenic variant (p.r226del) in axonal charcot-marie-tooth disease. |
2018-03-16 |
2023-08-13 |
Not clear |
| Salvador Martí, Marian León, Carmen Orellana, Javier Prieto, Xavier Ponsoda, Carlos López-García, Juan Jesús Vílchez, Teresa Sevilla, Josema Torre. Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene. Stem cell research. vol 18. 2017-11-22. PMID:28395795. |
human cmt2-fips4f1 cell line was generated from fibroblasts of a patient with charcot-marie-tooth disease harbouring the following mutations in the gdap1 gene in heterozygosis: p.q163x/p.t288nfsx3. |
2017-11-22 |
2023-08-13 |
human |
| Angela M Martin, Silvia J Maradei, Harvy M Velasc. Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family. Colombia medica (Cali, Colombia). vol 46. issue 4. 2016-09-28. PMID:26848201. |
charcot marie tooth disease (cmt4a) due to gdap1 mutation: report of a colombian family. |
2016-09-28 |
2023-08-13 |
Not clear |
| Angela M Martin, Silvia J Maradei, Harvy M Velasc. Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family. Colombia medica (Cali, Colombia). vol 46. issue 4. 2016-09-28. PMID:26848201. |
mutations of gdap1 gene cause autosomal dominant and autosomal recessive charcot-marie-tooth disease and more than 40 different mutations have been reported. |
2016-09-28 |
2023-08-13 |
Not clear |
| Dmitriy Niyazov, Diane Afric. Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency. Molecular syndromology. vol 6. issue 4. 2015-12-09. PMID:26648837. |
mitochondrial dysfunction in a patient with 8q21.11 deletion and charcot-marie-tooth disease type 2k due to gdap1 haploinsufficiency. |
2015-12-09 |
2023-08-13 |
Not clear |
| Anna Kostera-Pruszczyk, Joanna Kosinska, Agnieszka Pollak, Piotr Stawinski, Anna Walczak, Krystyna Wasilewska, Anna Potulska-Chromik, Piotr Szczudlik, Anna Kaminska, Rafal Plosk. Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. Journal of the peripheral nervous system : JPNS. vol 19. issue 3. 2015-12-03. PMID:25403865. |
exome sequencing reveals mutations in mfn2 and gdap1 in severe charcot-marie-tooth disease. |
2015-12-03 |
2023-08-13 |
Not clear |
| Davide Pareyson, Paola Saveri, Anna Sagnelli, Giuseppe Piscosquit. Mitochondrial dynamics and inherited peripheral nerve diseases. Neuroscience letters. vol 596. 2015-10-12. PMID:25847151. |
abnormalities of mitochondrial dynamics produced by mutations in proteins involved in mitochondrial fusion (mitofusin-2, mfn2), fission (ganglioside-induced differentiation-associated protein-1, gdap1), and mitochondrial axonal transport usually present with a charcot-marie-tooth disease (cmt) phenotype. |
2015-10-12 |
2023-08-13 |
Not clear |
| Dagmara Kabzińska, Katarzyna Kotruchow, Joanna Cegielska, Irena Hausmanowa-Petrusewicz, Andrzej Kochańsk. A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation. Acta biochimica Polonica. vol 61. issue 4. 2015-09-14. PMID:25337607. |
a severe recessive and a mild dominant form of charcot-marie-tooth disease associated with a newly identified glu222lys gdap1 gene mutation. |
2015-09-14 |
2023-08-13 |
Not clear |
| Christina DiVincenzo, Christopher D Elzinga, Adam C Medeiros, Izabela Karbassi, Jeremiah R Jones, Matthew C Evans, Corey D Braastad, Crystal M Bishop, Malgorzata Jaremko, Zhenyuan Wang, Khalida Liaquat, Carol A Hoffman, Michelle D York, Sat D Batish, James R Lupski, Joseph J Higgin. The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Molecular genetics & genomic medicine. vol 2. issue 6. 2015-01-23. PMID:25614874. |
we report the frequency, positive rate, and type of mutations in 14 genes (pmp22, gjb1, mpz, mfn2, sh3tc2, gdap1, nefl, litaf, gars, hspb1, fig4, egr2, prx, and rab7a) associated with charcot-marie-tooth disease (cmt) in a cohort of 17,880 individuals referred to a commercial genetic testing laboratory. |
2015-01-23 |
2023-08-13 |
Not clear |
| Axel Niemann, Nina Huber, Konstanze M Wagner, Christian Somandin, Michael Horn, Frédéric Lebrun-Julien, Brigitte Angst, Jorge A Pereira, Hartmut Halfter, Hans Welzl, M Laura Feltri, Lawrence Wrabetz, Peter Young, Carsten Wessig, Klaus V Toyka, Ueli Sute. The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease. Brain : a journal of neurology. vol 137. issue Pt 3. 2014-05-26. PMID:24480485. |
the gdap1 knockout mouse mechanistically links redox control to charcot-marie-tooth disease. |
2014-05-26 |
2023-08-12 |
mouse |
| Axel Niemann, Nina Huber, Konstanze M Wagner, Christian Somandin, Michael Horn, Frédéric Lebrun-Julien, Brigitte Angst, Jorge A Pereira, Hartmut Halfter, Hans Welzl, M Laura Feltri, Lawrence Wrabetz, Peter Young, Carsten Wessig, Klaus V Toyka, Ueli Sute. The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease. Brain : a journal of neurology. vol 137. issue Pt 3. 2014-05-26. PMID:24480485. |
the ganglioside-induced differentiation-associated protein 1 (gdap1) is a mitochondrial fission factor and mutations in gdap1 cause charcot-marie-tooth disease. |
2014-05-26 |
2023-08-12 |
mouse |
| Axel Niemann, Nina Huber, Konstanze M Wagner, Christian Somandin, Michael Horn, Frédéric Lebrun-Julien, Brigitte Angst, Jorge A Pereira, Hartmut Halfter, Hans Welzl, M Laura Feltri, Lawrence Wrabetz, Peter Young, Carsten Wessig, Klaus V Toyka, Ueli Sute. The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease. Brain : a journal of neurology. vol 137. issue Pt 3. 2014-05-26. PMID:24480485. |
we found that gdap1 knockout mice (gdap1(-/-)), mimicking genetic alterations of patients suffering from severe forms of charcot-marie-tooth disease, develop an age-related, hypomyelinating peripheral neuropathy. |
2014-05-26 |
2023-08-12 |
mouse |
| Axel Niemann, Nina Huber, Konstanze M Wagner, Christian Somandin, Michael Horn, Frédéric Lebrun-Julien, Brigitte Angst, Jorge A Pereira, Hartmut Halfter, Hans Welzl, M Laura Feltri, Lawrence Wrabetz, Peter Young, Carsten Wessig, Klaus V Toyka, Ueli Sute. The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease. Brain : a journal of neurology. vol 137. issue Pt 3. 2014-05-26. PMID:24480485. |
our findings demonstrate that charcot-marie-tooth disease caused by mutations in gdap1 leads to mild, persistent oxidative stress in the peripheral nervous system, which can be compensated by gdap1l1 in the unaffected central nervous system. |
2014-05-26 |
2023-08-12 |
mouse |
| Mari Auranen, Emil Ylikallio, Jussi Toppila, Mirja Somer, Sari Kiuru-Enari, Henna Tyynisma. Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland. Neurogenetics. vol 14. issue 2. 2013-12-18. PMID:23456260. |
dominant gdap1 founder mutation is a common cause of axonal charcot-marie-tooth disease in finland. |
2013-12-18 |
2023-08-12 |
Not clear |
| Nina Huber, Sofia Guimaraes, Michael Schrader, Ueli Suter, Axel Nieman. Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission. EMBO reports. vol 14. issue 6. 2013-10-18. PMID:23628762. |
mutations in gdap1 lead to charcot-marie-tooth disease (cmt), an inherited peripheral neuropathy, and affect mitochondrial dynamics. |
2013-10-18 |
2023-08-12 |
Not clear |
| Fiore Manganelli, Chiara Pisciotta, Maria Nolano, Simona Capponi, Alessandro Geroldi, Antonietta Topa, Emilia Bellone, Arvid Suls, Paola Mandich, Lucio Santor. A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. Journal of the peripheral nervous system : JPNS. vol 17. issue 3. 2013-07-09. PMID:22971097. |
we report the clinical, electrophysiological, and skin biopsy findings of an italian charcot-marie-tooth disease type 2 (cmt2) family with a novel heterozygous gdap1 mutation. |
2013-07-09 |
2023-08-12 |
human |
| Anne Vital, Philippe Latour, Guilhem Sole, Xavier Ferrer, Marie Rouanet, François Tison, Claude Vital, Cyril Goize. A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations. Neuromuscular disorders : NMD. vol 22. issue 8. 2013-01-07. PMID:22546700. |
a french family with charcot-marie-tooth disease related to simultaneous heterozygous mfn2 and gdap1 mutations. |
2013-01-07 |
2023-08-12 |
Not clear |
| b' Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier, Marc Ferr\\xc3\\xa. A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K. Orphanet journal of rare diseases. vol 6. 2012-06-11. PMID:22200116.' |
the ganglioside-induced differentiation-associated protein 1 gene (gdap1), which is involved in the charcot-marie-tooth disease (cmt), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. |
2012-06-11 |
2023-08-12 |
human |
| Rebecca Noack, Svenja Frede, Philipp Albrecht, Nadine Henke, Annika Pfeiffer, Katrin Knoll, Thomas Dehmel, Gerd Meyer Zu Hörste, Mark Stettner, Bernd C Kieseier, Holger Summer, Stefan Golz, Andrzej Kochanski, Martina Wiedau-Pazos, Susanne Arnold, Jan Lewerenz, Axel Methne. Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential. Human molecular genetics. vol 21. issue 1. 2012-04-06. PMID:21965300. |
charcot-marie-tooth disease cmt4a: gdap1 increases cellular glutathione and the mitochondrial membrane potential. |
2012-04-06 |
2023-08-12 |
Not clear |
| Rebecca Noack, Svenja Frede, Philipp Albrecht, Nadine Henke, Annika Pfeiffer, Katrin Knoll, Thomas Dehmel, Gerd Meyer Zu Hörste, Mark Stettner, Bernd C Kieseier, Holger Summer, Stefan Golz, Andrzej Kochanski, Martina Wiedau-Pazos, Susanne Arnold, Jan Lewerenz, Axel Methne. Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential. Human molecular genetics. vol 21. issue 1. 2012-04-06. PMID:21965300. |
mutations in gdap1 lead to recessively or dominantly inherited peripheral neuropathies (charcot-marie-tooth disease, cmt), indicating that gdap1 is essential for the viability of cells in the peripheral nervous system. |
2012-04-06 |
2023-08-12 |
Not clear |