| Gigaxonin is required for intermediate filament transport. | Gigaxonin is required for intermediate filament transport.
Renganathan B, Zewe JP, Cheng Y, Paumier JM, Kittisopikul M, Ridge KM, Opal P, Gelfand VI., Free PMC Article | 04/14/2023 |
| Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report. | Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report.
Zhang X, Guo Y, Sun W. | 10/29/2022 |
| Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India. | Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India.
Mir YR, Zeng X, Taneja AK, Hassan A, Sheth J, Kuchay RAH. | 06/5/2021 |
| Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. | Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Echaniz-Laguna A, Cuisset JM, Guyant-Marechal L, Aubourg P, Kremer L, Baaloul N, Verloes A, Beladgham K, Perrot J, Francou B, Latour P. | 05/29/2021 |
| Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes JP, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C, Bonello-Palot N. | 10/10/2020 |
| gigaxonin as a key E3 ligase that positively controls the initiation of Shh transduction, and reveal the causal role of Shh dysfunction in motor deficits, thus highlighting the developmental origin of giant axonal neuropathy. | Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.
Arribat Y, Mysiak KS, Lescouzères L, Boizot A, Ruiz M, Rossel M, Bomont P., Free PMC Article | 06/13/2020 |
| Study data clearly show that upon overexpression, KLHL16 degrades several keratins including K6, K16, and K17, associated with wound healing, migration, and inflammation, states that are known to require extensive keratin remodeling. | KLHL16 Degrades Epidermal Keratins.
Büchau F, Munz C, Has C, Lehmann R, Magin TM. | 06/15/2019 |
| Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease | Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parman Y, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A. | 12/16/2017 |
| We believe that molecular and functional investigation of gigaxonin mutations including the exon 8 polymorphism could lead to an improved understanding of the relationship between GAN and cancer | A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
Kang JJ, Liu IY, Wang MB, Srivatsan ES. | 06/24/2017 |
| A novel sequence alteration in the gene GAN, c.103G > T, was identified as most likely the underlying cause for a sensory-motor axonal neuropathy in a large consanguineous family presenting as Charcot-Marie-Tooth disease type 2. | Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
Aharoni S, Barwick KE, Straussberg R, Harlalka GV, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH., Free PMC Article | 05/20/2017 |
| a proteomic screen to identify the normal binding partners of GIG, is reported. | Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy.
Johnson-Kerner BL, Garcia Diaz A, Ekins S, Wichterle H., Free PMC Article | 06/11/2016 |
| The disease is caused by GAN gene mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN. | Giant axonal disease: Report of eight cases.
Incecik F, Herguner OM, Ceylaner S, Zorludemir S, Altunbasak S. | 06/4/2016 |
| This study showed that The instability of Gigaxonin causes Giant Axonal Neuropathy. | The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Boizot A, Talmat-Amar Y, Morrogh D, Kuntz NL, Halbert C, Chabrol B, Houlden H, Stojkovic T, Schulman BA, Rautenstrauss B, Bomont P., Free PMC Article | 12/20/2014 |
| A novel missense mutation in four siblings born to consanguineous parents of Arab origin with clinical and molecular features compatible with giant axonal neuropathy. | A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.
Abu-Rashid M, Mahajnah M, Jaber L, Kornreich L, Bar-On E, Basel-Vanagaite L, Soffer D, Koenig M, Straussberg R. | 01/18/2014 |
| gigaxonin is a major factor in the degradation of cytoskeletal intermediate filaments | Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.
Mahammad S, Murthy SN, Didonna A, Grin B, Israeli E, Perrot R, Bomont P, Julien JP, Kuczmarski E, Opal P, Goldman RD., Free PMC Article | 07/6/2013 |
| No GAN variant is identified in DNA obtained from well-characterized cases of human neuronal intermediate filament inclusion disease (frontotemporal dementia). | Gigaxonin mutation analysis in patients with NIFID.
Dequen F, Cairns NJ, Bigio EH, Julien JP., Free PMC Article | 05/19/2012 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
Dastani Z, Pajukanta P, Marcil M, Rudzicz N, Ruel I, Bailey SD, Lee JC, Lemire M, Faith J, Platko J, Rioux J, Hudson TJ, Gaudet D, Engert JC, Genest J., Free PMC Article | 12/2/2009 |
| Study shows that the gigaxonin E3 ligase subunit is normally expressed at a very low level and that various missense and nonsense mutations scattered across the entire GAN gene produce highly unstable protein products. | Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
Cleveland DW, Yamanaka K, Bomont P., Free PMC Article | 01/21/2010 |
| a functional important part of the gigaxonin protein is altered by the AluYa5 insertion and causes giant axonal neuropathy [case report] | Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.
Nalini A, Gayathri N, Yasha TC, Ravishankar S, Urtizberea A, Huehne K, Rautenstrauss B. | 01/21/2010 |
| Five families with GAN for mutations in the Gigaxonin gene and mutations were found in four families; three families had homozygous mutations, one had two compound heterozygous mutations and one family had no mutation identified. | New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.
Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM., Free PMC Article | 01/21/2010 |
| gigaxonin mutations impede this ubiquitin degradation process leading to accumulation of microtubule associated proteins and there by impairing cellular functions | Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G. | 01/21/2010 |
| 3 new mutants were found in patients with giant axonal neuropathy: an intronic mutation near the splice donor site of intron 2 & a missense mutation in exon 3 (I182N), & 2 identical deletion alleles. | Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients.
Leung CL, Pang Y, Shu C, Goryunov D, Liem RK., Free PMC Article | 01/21/2010 |
| Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway. | Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.
Wang W, Ding J, Allen E, Zhu P, Zhang L, Vogel H, Yang Y. | 01/21/2010 |
| Ubiquitin-proteasome system shown to be responsible for neurodegeneration occurring in GAN-null neurons and plays crucial roles in cytoskeletal functions and dynamics. | Giant axonal neuropathy.
Yang Y, Allen E, Ding J, Wang W., Free PMC Article | 01/21/2010 |