Alternative splicing (AS) is more a rule than an exception as it affects the expression of 60% of human genes.
Alternative splicing explains how a vast mammalian proteomic complexity is achieved with a limited number of genes.
Mutations in AS regulatory sequences are a widespread source of human disease.
AS regulation not only depends on the interaction of splicing factors with their target sequences in the pre-mRNA but is coupled to transcription.
A clearer picture is emerging of the (...)
Home > A. Molecular pathology
A. Molecular pathology
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alternative splicing
13 July 2003 -
polyubiquitylation
13 July 2003 -
monoubiquitylation
13 July 2003References
Salmena L, Pandolfi PP. Changing venues for tumour suppression: balancing destruction and localization by monoubiquitylation. Nat Rev Cancer. 2007 Jun;7(6):409-13. PMID: #17508027# -
ubiquitin-proteasome system
13 July 2003degradome, proteasome, ubiquitin-proteasome pathway
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DNA recombination
13 July 2003References
Kauppi L, Jeffreys AJ, Keeney S. Where the crossovers are: recombination distributions in mammals. nNat Rev Genet. 2004 Jun;5(6):413-24. PMID: #15153994#
Stumpf MP, McVean GA. Estimating recombination rates from population-genetic data. Nat Rev Genet. 2003 Dec;4(12):959-68. PMID: #14631356#
Koehler KE, Hawley RS, Sherman S, Hassold T. Recombination and nondisjunction in humans and flies. Hum Mol Genet. 1996;5 Spec No:1495-504. PMID: (...) -
Rho kinases
13 July 2003ROCKs
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cell signaling
13 July 2003cellular signalling
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protein folding
13 July 2003folded protein
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ubiquitination
13 July 2003ubiquitylation
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ubiquitin
13 July 2003Function
Ubiquitin modifications target proteins to the 26S proteasome for proteolysis.
polyubiquitin (polyUb) chains promote proteasomal degradation
monoubiquitin (monoUb) play a role in vesicular trafficking
Types
polyubiquitin (polyUb)
monoubiquitin (monoUb)
Pathology of ubiquitin
ubiquitin-positive deposits found in patients with Alzheimer’s disease (AD)
See also
ubiquitin-positive deposits
References
Hoeller D, Hecker CM, Dikic I. Ubiquitin and ubiquitin-like (...)
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