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10.1016/j.ajhg.2012.07.014 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2012.07.014 22883144/?report=reader!3415534!22883144     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2012 ; 91 (2): 320-9 Nephropedia Template TP {{tp|p=22883144|t=2012. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement |pdf=|usr=}}{{22883144}} gab.com Text The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=22883144 #FOAvip Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration. Twit Text FOAVip The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=22883144 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=22883144 #FOAvip English Wikipedia <ref>{{Cite pmid|22883144}}</ref> The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement #MMPMID22883144 Ishiura H; Sako W; Yoshida M; Kawarai T; Tanabe O; Goto J; Takahashi Y; Date H; Mitsui J; Ahsan B; Ichikawa Y; Iwata A; Yoshino H; Izumi Y; Fujita K; Maeda K; Goto S; Koizumi H; Morigaki R; Ikemura M; Yamauchi N; Murayama S; Nicholson GA; Ito H; Sobue G; Nakagawa M; Kaji R; Tsuji S Am J Hum Genet 2012[Aug]; 91 (2): 320-9 PMID22883144show ga Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration. |Base Sequence[MESH] |Chromosomes, Human, Pair 3/*genetics[MESH] |DNA-Binding Proteins/genetics[MESH] |Exome/genetics[MESH] |Genetic Linkage[MESH] |Genetic Predisposition to Disease/*genetics[MESH] |Golgi Apparatus/pathology[MESH] |Haplotypes/genetics[MESH] |Hereditary Sensory and Motor Neuropathy/*genetics/pathology[MESH] |Humans[MESH] |Inclusion Bodies/pathology[MESH] |Japan[MESH] |Molecular Sequence Data[MESH] |Motor Neurons/pathology[MESH] |Pedigree[MESH] |Point Mutation/genetics[MESH] |Polymorphism, Single Nucleotide/genetics[MESH] |Proteins/*genetics[MESH]The TRK-fused gene is mutated in hereditary motor and sensory neuropat(epmc).pdf DeepDyve Pubget Overpricing