AD-HSP is the predominant form of the disease, accounting for 43–80% of cases [3, 7,8,9,10,11]. Spastic paraplegia type 4 (SPG4) is the most common type of AD-HSP and is caused by a pathogenic variant in SPAST. Most HSP-SPAST patients are clinically characterized as pure HSPs...
Huntington’s disease (HD) is a neurodegenerative disorder whereby mutated huntingtin protein (mHTT) aggregates when polyglutamine repeats in the N-terminal of mHTT exceeds 36 glutamines (Q). However, the mechanism of this pathology is unknown. Siah1-int
Perhaps the most dramatic example of endo-independent non-LTR retrotransposition occurs naturally in Drosophila, where the codependent non-LTR retrotransposons TART, HeT-A and TAHRE retrotranspose at chromosome ends to form the telomeres [54, 66–68]. A similar reaction has been recapitulated on ...
Matsumine H, Saito M, Shimoda-Matsubayashi S, Tanaka H, Ishikawa A, Nakagawa-Hattori Y, Yokochi M, Kobayashi T, Igarashi S, Takano H, et al: Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2–27. Am J Hum Genet. 1997, 60 (3): 588...
Unbalanced translocations may be de novo or inherited from one parent carrying the balanced form and are usually present in all cells. Mosaic unbalanced translocations are extremely rare with a highly variable phenotype depending on the tissue distribution and level of mosaicism. Mosaicism for structural...
Mutations in the gene encoding for the E3 ubiquitin ligase Parkin are associated to a rare form of familiar autosomal recessive Parkinsonism. Despite decades of research on the Parkin protein, whose structure has been recently solved, little is known about the specific signalling pathways that lead ...
where the reinforced concrete specimens are taken as comparison specimen.Mucis the bending capacities of control concrete specimen without ECC layer (BA-0, BA-50, BA-100 and BA-150) in each group.Mqcanddqare the moment and corresponding deflection under quasi-permanent combinations of control conc...
10.1093/hmg/ddq278. Article PubMed Google Scholar Wu X, Steet RA, Bohorov O, Bakker J, Newell J, Krieger M, Spaapen L, Kornfeld S, Freeze HH: Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med. 2004, 10: 518-523. 10.1038/nm1041. Article...
The signal obtained from an MS experiment is given in the form of spectra, which are then compared to a database for protein identification. We will review and summarize the results obtained with different analyses of biological materials for the understanding of changes that occur in ASD versus...
The biological function of CDH13 remains largely unknown. However, it is a known APN receptor, and binding of the high molecular weight form of APN to CDH13 transduces signals and activates AMPK activity [44]. Furthermore, CDH13 is known to function as a tumor suppressor gene, and suppressi...