The molecular genetics of RASopathies: An update on novel disease genes and new disorders
M Tartaglia, Y Aoki, BD Gelb - American Journal of Medical …, 2022 - Wiley Online Library
Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK)
cascade underlies the RASopathies, a family of clinically related disorders affecting …
cascade underlies the RASopathies, a family of clinically related disorders affecting …
Disorders of dysregulated signal traffic through the RAS‐MAPK pathway: Phenotypic spectrum and molecular mechanisms
M Tartaglia, BD Gelb - Annals of the new York Academy of …, 2010 - Wiley Online Library
RAS GTPases control a major signaling network implicated in several cellular functions,
including cell fate determination, proliferation, survival, differentiation, migration, and …
including cell fate determination, proliferation, survival, differentiation, migration, and …
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype
H Brems, M Chmara, M Sahbatou, E Denayer… - Nature …, 2007 - nature.com
We report germline loss-of-function mutations in SPRED1 in a newly identified autosomal
dominant human disorder. SPRED1 is a member of the SPROUTY/SPRED family of proteins …
dominant human disorder. SPRED1 is a member of the SPROUTY/SPRED family of proteins …
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
M Motta, G Fasano, S Gredy, J Brinkmann… - The American Journal of …, 2021 - cell.com
Upregulated signal flow through RAS and the mitogen-associated protein kinase (MAPK)
cascade is the unifying mechanistic theme of the RASopathies, a family of disorders …
cascade is the unifying mechanistic theme of the RASopathies, a family of disorders …
A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1
IB Stowe, EL Mercado, TR Stowe, EL Bell… - Genes & …, 2012 - genesdev.cshlp.org
The Ras/mitogen-activated protein kinase (MAPK) pathway plays a critical role in
transducing mitogenic signals from receptor tyrosine kinases. Loss-of-function mutations in …
transducing mitogenic signals from receptor tyrosine kinases. Loss-of-function mutations in …
OCD-like behavior is caused by dysfunction of thalamo-amygdala circuits and upregulated TrkB/ERK-MAPK signaling as a result of SPRED2 deficiency
M Ullrich, M Weber, AM Post, S Popp, J Grein… - Molecular …, 2018 - nature.com
Obsessive-compulsive disorder (OCD) is a common neuropsychiatric disease affecting
about 2% of the general population. It is characterized by persistent intrusive thoughts and …
about 2% of the general population. It is characterized by persistent intrusive thoughts and …
SPRED proteins and their roles in signal transduction, development, and malignancy
C Lorenzo, F McCormick - Genes & development, 2020 - genesdev.cshlp.org
The roles of SPRED proteins in signaling, development, and cancer are becoming
increasingly recognized. SPRED proteins comprise an N-terminal EVH-1 domain, a central c …
increasingly recognized. SPRED proteins comprise an N-terminal EVH-1 domain, a central c …
Getting a first clue about SPRED functions
K Bundschu, U Walter, K Schuh - Bioessays, 2007 - Wiley Online Library
Spreds form a new protein family with an N‐terminal Enabled/VASP homology 1 domain
(EVH1), a central c‐Kit binding domain (KBD) and a C‐terminal Sprouty‐related domain …
(EVH1), a central c‐Kit binding domain (KBD) and a C‐terminal Sprouty‐related domain …
Comparative genomics sheds light on the convergent evolution of miniaturized wasps
Miniaturization has occurred in many animal lineages, including insects and vertebrates, as
a widespread trend during animal evolution. Among Hymenoptera, miniaturization has taken …
a widespread trend during animal evolution. Among Hymenoptera, miniaturization has taken …
The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease
HIP14 is the most highly conserved of 23 human palmitoyl acyltransferases (PATs) that
catalyze the post-translational addition of palmitate to proteins, including huntingtin (HTT) …
catalyze the post-translational addition of palmitate to proteins, including huntingtin (HTT) …