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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

Comparative genomics sheds light on the convergent evolution of miniaturized wasps

H Xu, X Ye, Y Yang, Y Yang, YH Sun… - Molecular biology …, 2021 - academic.oup.com
Miniaturization has occurred in many animal lineages, including insects and vertebrates, as
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

SL Butland, SS Sanders, ME Schmidt… - Human molecular …, 2014 - academic.oup.com
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) …