| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Anna Estela, David Pla-Martín, Maribel Sánchez-Piris, Hiromi Sesaki, Francesc Pala. Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells. The Journal of biological chemistry. vol 286. issue 42. 2011-12-07. PMID:21890626. |
in the case of neurons harboring defects in gdap1, the interaction between mitochondria and the microtubule cytoskeleton would be altered, which might affect mitochondrial axonal transport and movement within the cell and may explain the pathophysiology of the gdap1-related charcot-marie-tooth disease. |
2011-12-07 |
2023-08-12 |
human |
| Dagmara Kabzińska, Axel Niemann, Hanna Drac, Nina Huber, Anna Potulska-Chromik, Irena Hausmanowa-Petrusewicz, Ueli Suter, Andrzej Kochańsk. A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease. Neurogenetics. vol 12. issue 2. 2011-09-16. PMID:21365284. |
charcot-marie-tooth disease (cmt) caused by mutations in the ganglioside-induced differentiation-associated protein 1 (gdap1) gene is characterized by a spectrum of phenotypes. |
2011-09-16 |
2023-08-12 |
Not clear |
| Rafael Sivera, Carmen Espinós, Juan J Vílchez, Fernando Mas, Dolores Martínez-Rubio, María José Chumillas, Fernando Mayordomo, Nuria Muelas, Luis Bataller, Francesc Palau, Teresa Sevill. Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. Journal of the peripheral nervous system : JPNS. vol 15. issue 4. 2011-06-07. PMID:21199105. |
phenotypical features of the p.r120w mutation in the gdap1 gene causing autosomal dominant charcot-marie-tooth disease. |
2011-06-07 |
2023-08-12 |
Not clear |
| Julien Cassereau, Arnaud Chevrollier, Naïg Gueguen, Valérie Desquiret, Christophe Verny, Guillaume Nicolas, Frédéric Dubas, Patrizia Amati-Bonneau, Pascal Reynier, Dominique Bonneau, Vincent Procacci. Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. Experimental neurology. vol 227. issue 1. 2011-02-04. PMID:20849849. |
mitochondrial dysfunction and pathophysiology of charcot-marie-tooth disease involving gdap1 mutations. |
2011-02-04 |
2023-08-12 |
Not clear |
| Dagmara Kabzińska, Halina Strugalska-Cynowska, Anna Kostera-Pruszczyk, Barbara Ryniewicz, Renata Posmyk, Alina Midro, Pavel Seeman, Lucia Báranková, Magdalena Zimoń, Jonathan Baets, Vincent Timmerman, Velina Guergueltcheva, Ivailo Tournev, Stayko Sarafov, Peter De Jonghe, Albena Jordanova, Irena Hausmanowa-Petrusewicz, Andrzej Kochańsk. L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. Neurogenetics. vol 11. issue 3. 2010-09-24. PMID:20232219. |
over 40 mutations in the gdap1 gene have been shown to segregate with charcot-marie-tooth disease (cmt). |
2010-09-24 |
2023-08-12 |
Not clear |
| Axel Niemann, Konstanze Marion Wagner, Marcel Ruegg, Ueli Sute. GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiology of disease. vol 36. issue 3. 2010-02-18. PMID:19782751. |
mutations in the gdap1 gene lead to recessively or dominantly inherited peripheral neuropathies (charcot-marie-tooth disease; cmt). |
2010-02-18 |
2023-08-12 |
Not clear |
| Marcin Ratajewski, Lukasz Pulask. YY1-dependent transcriptional regulation of the human GDAP1 gene. Genomics. vol 94. issue 6. 2010-02-17. PMID:19720140. |
charcot-marie-tooth disease (cmt) is a heritable neurodegenerative condition, some types of which (notably cmt4a) are caused by mutations in the gdap1 gene that encodes a protein of unknown molecular function implicated in regulation of mitochondrial fission. |
2010-02-17 |
2023-08-12 |
human |
| Julien Cassereau, Arnaud Chevrollier, Naïg Gueguen, Marie-Claire Malinge, Franck Letournel, Guillaume Nicolas, Laurence Richard, Marc Ferre, Christophe Verny, Frédéric Dubas, Vincent Procaccio, Patrizia Amati-Bonneau, Dominique Bonneau, Pascal Reynie. Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics. vol 10. issue 2. 2009-08-04. PMID:19089472. |
mutations in gdap1, an outer mitochondrial membrane protein responsible for recessive charcot-marie-tooth disease (cmt4a), have also been associated with cmt2k, a dominant form of the disease. |
2009-08-04 |
2023-08-12 |
Not clear |
| B Xin, E Puffenberger, L Nye, M Wiznitzer, H Wan. A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. Clinical genetics. vol 74. issue 3. 2008-11-18. PMID:18492089. |
a novel mutation in the gdap1 gene is associated with autosomal recessive charcot-marie-tooth disease in an amish family. |
2008-11-18 |
2023-08-12 |
Not clear |
| Ki Wha Chung, Seung Min Kim, Il Nam Sunwoo, Sun Young Cho, Su Jin Hwang, Joonki Kim, Sung Hee Kang, Kee-Duk Park, Kyoung-Gyu Choi, Il Saing Choi, Byung-Ok Cho. A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. Journal of human genetics. vol 53. issue 4. 2008-06-17. PMID:18231710. |
a novel gdap1 q218e mutation in autosomal dominant charcot-marie-tooth disease. |
2008-06-17 |
2023-08-12 |
Not clear |
| Ki Wha Chung, Seung Min Kim, Il Nam Sunwoo, Sun Young Cho, Su Jin Hwang, Joonki Kim, Sung Hee Kang, Kee-Duk Park, Kyoung-Gyu Choi, Il Saing Choi, Byung-Ok Cho. A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. Journal of human genetics. vol 53. issue 4. 2008-06-17. PMID:18231710. |
a wide range of phenotypes have been reported in autosomal recessive (ar) charcot-marie-tooth disease (cmt) patients carrying mutations in the ganglioside-induced differentiation-associated protein 1 (gdap1) gene, such as axonal, demyelinating, and intermediate forms of ar cmt. |
2008-06-17 |
2023-08-12 |
Not clear |
| D Kabzińska, G M Saifi, H Drac, K Rowińska-Marcińska, I Hausmanowa-Petrusewicz, A Kochański, J R Lupsk. Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 26. issue 2. 2008-05-29. PMID:18421898. |
charcot-marie-tooth disease type 4c4 caused by a novel pro153leu substitution in the gdap1 gene. |
2008-05-29 |
2023-08-12 |
Not clear |
| D Kabzinska, H Drac, K Rowinska-Marcinska, A Fidzianska, A Kochanski, I Hausmanowa-Petrusewic. Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 25. issue 1. 2006-12-07. PMID:17039978. |
early onset charcot-marie-tooth disease caused by a homozygous leu239phe mutation in the gdap1 gene. |
2006-12-07 |
2023-08-12 |
Not clear |
| D Kabzinska, H Drac, K Rowinska-Marcinska, A Fidzianska, A Kochanski, I Hausmanowa-Petrusewic. Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 25. issue 1. 2006-12-07. PMID:17039978. |
to date more than twenty mutations in the gdap1 gene have been reported in patients suffering from the demyelinating, axonal or mixed form of charcot-marie-tooth disease. |
2006-12-07 |
2023-08-12 |
Not clear |
| D Kabzinska, H Drac, K Rowinska-Marcinska, A Fidzianska, A Kochanski, I Hausmanowa-Petrusewic. Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 25. issue 1. 2006-12-07. PMID:17039978. |
we report a homozygous leu239phe mutation in the gdap1 gene in a 39-year-old female with a severe form of mixed axonal and demyelinating charcot-marie-tooth disease. |
2006-12-07 |
2023-08-12 |
Not clear |
| Dagmara Kabzińska, Andrzej Kochański, Hanna Drac, Katarzyna Rowińska-Marcińska, Barbara Ryniewicz, Laia Pedrola, Francesc Palau, Irena Hausmanowa-Petrusewic. A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease. Journal of the neurological sciences. vol 241. issue 1-2. 2006-04-25. PMID:16343542. |
mutations in the gene coding for ganglioside-induced differentiation-associated protein-1 (gdap1), which maps to chromosome 8q21, have been described in families with autosomal recessive charcot-marie-tooth disease (cmt4a). |
2006-04-25 |
2023-08-12 |
Not clear |
| Axel Niemann, Marcel Ruegg, Veronica La Padula, Angelo Schenone, Ueli Sute. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. The Journal of cell biology. vol 170. issue 7. 2005-12-05. PMID:16172208. |
mutations in gdap1 lead to severe forms of the peripheral motor and sensory neuropathy, charcot-marie-tooth disease (cmt), which is characterized by heterogeneous phenotypes, including pronounced axonal damage and demyelination. |
2005-12-05 |
2023-08-12 |
Not clear |
| D Kabzińska, A Kochański, H Drac, B Ryniewicz, K Rowińska-Marcińska, I Hausmanowa-Petrusewic. Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene. Neuropediatrics. vol 36. issue 3. 2005-09-29. PMID:15944907. |
autosomal recessive axonal form of charcot-marie-tooth disease caused by compound heterozygous 3'-splice site and ser130cys mutation in the gdap1 gene. |
2005-09-29 |
2023-08-12 |
Not clear |
| Laia Pedrola, Antonio Espert, Xingyao Wu, Reyes Claramunt, Michael E Shy, Francesc Pala. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Human molecular genetics. vol 14. issue 8. 2005-08-16. PMID:15772096. |
gdap1, the protein causing charcot-marie-tooth disease type 4a, is expressed in neurons and is associated with mitochondria. |
2005-08-16 |
2023-08-12 |
human |
| Antonio Marco, Ana Cuesta, Laia Pedrola, Francesc Palau, Ignacio Marí. Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. Molecular biology and evolution. vol 21. issue 1. 2004-10-21. PMID:14595091. |
evolutionary and structural analyses of gdap1, involved in charcot-marie-tooth disease, characterize a novel class of glutathione transferase-related genes. |
2004-10-21 |
2023-08-12 |
human |