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Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.
Park J, Kim HS, Kwon HM, Kim J, Nam SH, Jung NY, Lee AJ, Jung YH, Kim SB, Chung KW, Choi BO. Park J, et al. Genes Genomics. 2022 Aug;44(8):1007-1016. doi: 10.1007/s13258-022-01253-w. Epub 2022 May 24. Genes Genomics. 2022. PMID: 35608774
BACKGROUND: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare subtype associated with LITAF gene mutations. ...CMT1C patients showed milder symptoms than CMT1A patients. The mean CMT neuropathy score version 2 was 7.7, and the …
BACKGROUND: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare subtype associated with LITAF ge …
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.
Jerath NU, Shy ME. Jerath NU, et al. Muscle Nerve. 2017 Dec;56(6):1092-1095. doi: 10.1002/mus.25600. Epub 2017 Apr 29. Muscle Nerve. 2017. PMID: 28164329 Free PMC article.
INTRODUCTION: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/la …
INTRODUCTION: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropat …
Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein.
Li W, Zhu H, Zhao X, Brancho D, Liang Y, Zou Y, Bennett C, Chow CW. Li W, et al. Mol Cell Biol. 2015 Jul;35(14):2464-78. doi: 10.1128/MCB.00300-15. Mol Cell Biol. 2015. PMID: 25963657 Free PMC article.
Upon stimulation with interkeukin-1 or transforming growth factor , prolonged activation of p38 kinase/JNK is detected, while nuclear accumulation of NF-kappaB and phosphorylation of SMAD2 is reduced with CMT1C mutation. The aberrant kinetics we observed in inflammatory si …
Upon stimulation with interkeukin-1 or transforming growth factor , prolonged activation of p38 kinase/JNK is detected, while nuclear accumu …
Variants of uncertain significance in the era of next-generation sequencing.
Levkova M, Stoyanova M, Benkova-Petrova M, Georgieva M, Angelova L. Levkova M, et al. J Am Assoc Nurse Pract. 2022 Aug 1;34(8):1018-1021. doi: 10.1097/JXX.0000000000000745. J Am Assoc Nurse Pract. 2022. PMID: 35731603
In case 1, a VUS was found in the LITAF gene, which is associated with autosomal dominant Charcot-Marie-Tooth disease type 1C. In case 2, a VUS was reported in the MEFV gene, which is associated with autosomal recessive and autosomal domi …
In case 1, a VUS was found in the LITAF gene, which is associated with autosomal dominant Charcot-Marie-Tooth diseas …
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.
Edgar JR, Ho AK, Laurá M, Horvath R, Reilly MM, Luzio JP, Roberts RC. Edgar JR, et al. Acta Neuropathol Commun. 2020 Oct 15;8(1):165. doi: 10.1186/s40478-020-01043-z. Acta Neuropathol Commun. 2020. PMID: 33059769 Free PMC article.
Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have investigated the cons …
Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot-Marie-Tooth …
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.
Guimarães-Costa R, Iancu Ferfoglia R, Leonard-Louis S, Ziegler F, Magy L, Fournier E, Dubourg O, Bouche P, Maisonobe T, Lacour A, Moerman A, Latour P, Stojkovic T. Guimarães-Costa R, et al. Eur J Neurol. 2017 Mar;24(3):530-538. doi: 10.1111/ene.13239. Eur J Neurol. 2017. PMID: 28211240
RESULTS: Two phenotypes were identified amongst 18 CMT1C patients: the classical CMT form ('CMT-like', 11 cases) and a predominantly sensory form ('sensory form', seven cases). The mean CMT neuropathy score was 4.45 in CMT1C patients. Motor nerve conduction velocities in t …
RESULTS: Two phenotypes were identified amongst 18 CMT1C patients: the classical CMT form ('CMT-like', 11 cases) and a predominantly sensory …
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.
Ho AK, Wagstaff JL, Manna PT, Wartosch L, Qamar S, Garman EF, Freund SM, Roberts RC. Ho AK, et al. BMC Biol. 2016 Dec 7;14(1):109. doi: 10.1186/s12915-016-0332-8. BMC Biol. 2016. PMID: 27927196 Free PMC article.
BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-alpha factor (LITAF) cause the autosomal dominant inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). LITAF encodes a 17 kDa protein cont …
BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-alpha factor (LITAF) cause the autosomal dominant inherited perip …
The Charcot Marie Tooth disease protein LITAF is a zinc-binding monotopic membrane protein.
Qin W, Wunderley L, Barrett AL, High S, Woodman PG. Qin W, et al. Biochem J. 2016 Nov 1;473(21):3965-3978. doi: 10.1042/BCJ20160657. Epub 2016 Aug 31. Biochem J. 2016. PMID: 27582497 Free PMC article.
LITAF (LPS-induced TNF-activating factor) is an endosome-associated integral membrane protein important for multivesicular body sorting. Several mutations in LITAF cause autosomal-dominant Charcot Marie Tooth disease type 1C. These mutati …
LITAF (LPS-induced TNF-activating factor) is an endosome-associated integral membrane protein important for multivesicular body sorting. Sev …
Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.
Street VA, Goldy JD, Golden AS, Tempel BL, Bird TD, Chance PF. Street VA, et al. Am J Hum Genet. 2002 Jan;70(1):244-50. doi: 10.1086/337943. Epub 2001 Nov 16. Am J Hum Genet. 2002. PMID: 11713717 Free PMC article.
Affected individuals in these families manifest characteristic CMT symptoms, including high-arched feet, distal muscle weakness and atrophy, depressed deep-tendon reflexes, sensory impairment, slow nerve conduction velocities, and nerve demyelination. A maximal combined LOD sc …
Affected individuals in these families manifest characteristic CMT symptoms, including high-arched feet, distal muscle weakness and atrophy, …
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I. Latour P, et al. J Peripher Nerv Syst. 2006 Jun;11(2):148-55. doi: 10.1111/j.1085-9489.2006.00080.x. J Peripher Nerv Syst. 2006. PMID: 16787513
Charcot-Marie-Tooth disease type 1C (CMT1C) is caused by mutations in the small integral membrane protein of the lysosome/late endosome (SIMPLE). We analyzed the coding sequence of SIMPLE in DNA of 53 unrelated cases of dominant demyelina …
Charcot-Marie-Tooth disease type 1C (CMT1C) is caused by mutations in the small integral membrane …