| Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia. | Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.
Hsiao CT, Tsai TY, Shen TY, Tsai YS, Liao YC, Lee YC, Tsai PC., Free PMC Article | 08/14/2024 |
| Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture. | Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture.
Cabras S, Di Pede F, Canosa A, Grassano M, Mongini TE, Gadaleta G, Calvo A, Chiò A, Moglia C, Gallone S. | 05/29/2024 |
| Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy. | Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu L, Wang Y, Wang W, Zhang R, Zhao D, Yun Y, Liu F, Zhao Y, Yan C, Lin P. | 03/25/2024 |
| TFG::MET-rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low-grade triphasic morphology. | TFG::MET-rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low-grade triphasic morphology.
Michal M, Ud Din N, Švajdler M, Klubíčková N, Ptáková N, Hájková V, Michal M, Agaimy A. | 03/16/2023 |
| TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration. | TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.
Chen X, Liu F, Chen K, Wang Y, Yin A, Kang X, Yang S, Zhao H, Dong S, Li Y, Chen J, Wu Y., Free PMC Article | 11/5/2022 |
| Mutation Screening of TFG in alpha-Synucleinopathy and Amyotrophic Lateral Sclerosis. | Mutation Screening of TFG in α-Synucleinopathy and Amyotrophic Lateral Sclerosis.
Li C, Lin J, Gu X, Hou Y, Liu K, Jiang Q, Ou R, Wei Q, Chen X, Song W, Zhao B, Wu Y, Chen Y, Shang H. | 08/27/2022 |
| A Novel TFG Mutation in a Korean Family with alpha-Synucleinopathy and Amyotrophic Lateral Sclerosis. | A Novel TFG Mutation in a Korean Family with α-Synucleinopathy and Amyotrophic Lateral Sclerosis.
Yoo D, Lee W, Lee SJ, Sung JJ, Jeon GS, Ban JJ, Shin C, Kim J, Kim HS, Ahn TB. | 03/19/2022 |
| Deregulation of CLTC interacts with TFG, facilitating osteosarcoma via the TGF-beta and AKT/mTOR signaling pathways. | Deregulation of CLTC interacts with TFG, facilitating osteosarcoma via the TGF-beta and AKT/mTOR signaling pathways.
Shijie L, Zhen P, Kang Q, Hua G, Qingcheng Y, Dongdong C., Free PMC Article | 02/12/2022 |
| Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature. | Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
Khorrami M, Tabatabaiefar MA, Khorram E, Yaghini O, Rezaei M, Hejazifar A, Riahinezhad M, Kheirollahi M. | 01/22/2022 |
| TFG binds LC3C to regulate ULK1 localization and autophagosome formation. | TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
Carinci M, Testa B, Bordi M, Milletti G, Bonora M, Antonucci L, Ferraina C, Carro M, Kumar M, Ceglie D, Eck F, Nardacci R, le Guerroué F, Petrini S, Soriano ME, Caruana I, Doria V, Manifava M, Peron C, Lambrughi M, Tiranti V, Behrends C, Papaleo E, Pinton P, Giorgi C, Ktistakis NT, Locatelli F, Nazio F, Cecconi F., Free PMC Article | 11/13/2021 |
| A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2. | A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.
Wu DW, Li Y, Yin X, Zhang B., Free PMC Article | 08/14/2021 |
| TFG-maintaining stability of overlooked FANCD2 confers early DNA-damage response. | TFG-maintaining stability of overlooked FANCD2 confers early DNA-damage response.
Ma C, Hokutan K, Shen Y, Nepal M, Kim JH, Zhang J, Fei P., Free PMC Article | 04/24/2021 |
| Tropomyosin-receptor kinase fused gene (TFG) regulates lipid production in human sebocytes. | Tropomyosin-receptor kinase fused gene (TFG) regulates lipid production in human sebocytes.
Choi SR, Hwang YL, Kim SJ, Sohn KC, Choi CW, Park KD, Lee Y, Seo YJ, Lee JH, Hong SP, Seo SJ, Kim SJ, Kim CD., Free PMC Article | 10/10/2020 |
| Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation has been described. | Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.
Khani M, Taheri H, Shamshiri H, Houlden H, Efthymiou S, Alavi A, Nafissi S, Elahi E. | 08/12/2020 |
| Data highlight a key role for TFG-mediated protein transport in the pathogenesis of HSP. | Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.
Slosarek EL, Schuh AL, Pustova I, Johnson A, Bird J, Johnson M, Frankel EB, Bhattacharya N, Hanna MG, Burke JE, Ruhl DA, Quinney K, Block S, Peotter JL, Chapman ER, Sheets MD, Butcher SE, Stagg SM, Audhya A., Free PMC Article | 02/1/2020 |
| This study highlights phenotypic heterogeneity characterizing individuals carrying the same pathogenic variant in TFG and provides an insight on tight connection linking mitochondrial efficiency and neuronal health to vesicular trafficking. | R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
Catania A, Battini R, Pippucci T, Pasquariello R, Chiapparini ML, Seri M, Garavaglia B, Zorzi G, Nardocci N, Ghezzi D, Tiranti V. | 09/28/2019 |
| Study suggests that a genetic variant in an intron of TFG may be associated with skin aging in Korean females, and TFG may be an interesting new candidate gene for exploring individual differences in the molecular bases of collagen and MMP production. | Possible role of tropomyosin-receptor kinase fused gene on skin collagen remodeling.
Shin JM, Kong SJ, Shin YA, Chang YH, Kim JY, Sohn KC, Seo YJ, Kim CD, Lee JH, Lee Y. | 06/8/2019 |
| TFG homozygous mutation is associated with early onset spastic paraplegia and later onset sensorimotor polyneuropathy. | A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.
Miyabayashi T, Ochiai T, Suzuki N, Aoki M, Inui T, Okubo Y, Sato R, Togashi N, Takashima H, Ishiura H, Tsuji S, Koh K, Takiyama Y, Haginoya K. | 03/23/2019 |
| Differences in the severity of the disorder as well as new clinical findings. These include presence of clonus, undeveloped speech, and sleep disturbances. these findings extend the phenotypic spectrum associated with the TFG mutations in Hereditary spastic paraplegia. | TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.
Tariq H, Naz S. | 02/24/2018 |
| TFG organizes transitional ER (tER) and ER exit sites (ERESs) into larger structures. | TFG Promotes Organization of Transitional ER and Efficient Collagen Secretion.
McCaughey J, Miller VJ, Stevenson NL, Brown AK, Budnik A, Heesom KJ, Alibhai D, Stephens DJ., Free PMC Article | 11/18/2017 |
| Results identified two TFG variants associated with hereditary spastic paraplegias (HSP) (c.316C>T and c.317G> A) confirming the causal nature of bi-allelic TFG mutations for HSP, and suggest that that mitochondrial impairment represents a pathomechanistic link to other neurodegenerative conditions. | Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. | 11/11/2017 |
| We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family. Six out of seven identified variants were novel. | Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Johnson A, Mairey M, Mohamed HESA, Idris MN, Salih MAM, El-Sadig SM, Koko ME, Mohamed AYO, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AKMA, Babai AMA, Malik HMO, Omer ZMBM, Mohamed EOE, Eltahir HB, Magboul NAA, Bushara EE, Elnour A, Rahim SMA, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G., Free PMC Article | 07/29/2017 |
| The results suggest that ALG-2 acts as a Ca2+-sensitive adaptor to concentrate and polymerize TFG at endoplasmic reticulum exit sites, supporting a potential role for ALG-2 in COPII-dependent trafficking from the endoplasmic reticulum. | The calcium-binding protein ALG-2 promotes endoplasmic reticulum exit site localization and polymerization of Trk-fused gene (TFG) protein.
Kanadome T, Shibata H, Kuwata K, Takahara T, Maki M. | 06/24/2017 |
| This study finding p.Gly269Val in a newly identified Iranian pedigree affected with hereditary motor and sensory neuropathy with proximal predominance. | Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.
Khani M, Shamshiri H, Alavi A, Nafissi S, Elahi E. | 05/27/2017 |
| HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry. | HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry.
Alavi A, Shamshiri H, Nafissi S, Khani M, Klotzle B, Fan JB, Steemers F, Elahi E. | 11/28/2015 |