Search Results - "Christ, Annabel"
-
1
Endocytic receptor LRP2/megalin—of holoprosencephaly and renal Fanconi syndrome
Published in Pflügers Archiv (01-08-2017)“…Megalin (or LRP2) is an endocytic receptor that plays a central role in embryonic development and adult tissue homeostasis. Loss of this receptor in congenital…”
Get full text
Journal Article -
2
Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects
Published in Scientific reports (15-04-2021)“…Patients with mutations in Cyclin M2 (CNNM2) suffer from hypomagnesaemia, seizures, and intellectual disability. Although the molecular function of CNNM2 is…”
Get full text
Journal Article -
3
LRP2 Is an Auxiliary SHH Receptor Required to Condition the Forebrain Ventral Midline for Inductive Signals
Published in Developmental cell (14-02-2012)“…Sonic hedgehog (SHH) is a regulator of forebrain development that acts through its receptor, patched 1. However, little is known about cellular mechanisms at…”
Get full text
Journal Article -
4
Cdon mutation and fetal alcohol converge on Nodal signaling in a mouse model of holoprosencephaly
Published in eLife (02-09-2020)“…Holoprosencephaly (HPE), a defect in midline patterning of the forebrain and midface, arises ~1 in 250 conceptions. It is associated with predisposing…”
Get full text
Journal Article -
5
LRP2 Acts as SHH Clearance Receptor to Protect the Retinal Margin from Mitogenic Stimuli
Published in Developmental cell (12-10-2015)“…During forebrain development, LRP2 promotes morphogen signaling as an auxiliary SHH receptor. However, in the developing retina, LRP2 assumes the opposing…”
Get full text
Journal Article -
6
Endocytic receptor-mediated control of morphogen signaling
Published in Development (Cambridge) (01-12-2012)“…Receptor-mediated endocytosis provides a mechanism by which cells take up signaling molecules from the extracellular space. Recent studies have shown that one…”
Get full text
Journal Article -
7
LRP2 in ependymal cells regulates BMP signaling in the adult neurogenic niche
Published in Journal of cell science (01-06-2010)“…The microenvironment of growth factors in the subependymal zone (SEZ) of the adult brain provides the instructive milieu for neurogenesis to proceed in this…”
Get full text
Journal Article -
8
Establishment of a Neuroepithelial Barrier by Claudin5a Is Essential for Zebrafish Brain Ventricular Lumen Expansion
Published in Proceedings of the National Academy of Sciences - PNAS (26-01-2010)“…Lumen expansion driven by hydrostatic pressure occurs during many morphogenetic processes. Although it is well established that members of the Claudin family…”
Get full text
Journal Article -
9
Foxg1-Cre Mediated Lrp2 Inactivation in the Developing Mouse Neural Retina, Ciliary and Retinal Pigment Epithelia Models Congenital High Myopia
Published in PloS one (24-06-2015)“…Myopia is a common ocular disorder generally due to increased axial length of the eye-globe. Its extreme form high myopia (HM) is a multifactorial disease…”
Get full text
Journal Article -
10
Sortilin regulates sorting and secretion of Sonic hedgehog
Published in Journal of cell science (15-10-2016)“…Sonic Hedgehog (Shh) is a secreted morphogen that is an essential regulator of patterning and growth. The Shh full-length protein undergoes autocleavage in the…”
Get full text
Journal Article -
11
LRP2 controls sonic hedgehog-dependent differentiation of cardiac progenitor cells during outflow tract formation
Published in Human molecular genetics (25-11-2020)“…Abstract Conotruncal malformations are a major cause of congenital heart defects in newborn infants. Recently, genetic screens in humans and in mouse models…”
Get full text
Journal Article -
12
LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease
Published in Developmental dynamics (01-05-2016)“…To fulfill their multiple roles in organ development and adult tissue homeostasis, hedgehog (HH) morphogens act through their receptor Patched (PTCH) on target…”
Get full text
Journal Article -
13
Evolutionary origins and interactomes of human, young microproteins and small peptides translated from short open reading frames
Published in Molecular cell (16-03-2023)“…All species continuously evolve short open reading frames (sORFs) that can be templated for protein synthesis and may provide raw materials for evolutionary…”
Get full text
Journal Article -
14
LRP2 contributes to planar cell polarity-dependent coordination of motile cilia function
Published in Cell and tissue research (01-05-2023)“…Motile cilia are protruding organelles on specialized epithelia that beat in a synchronous fashion to propel extracellular fluids. Coordination and orientation…”
Get full text
Journal Article -
15
GAS1 is required for NOTCH-dependent facilitation of SHH signaling in the ventral forebrain neuroepithelium
Published in Development (Cambridge) (01-11-2021)“…Growth arrest-specific 1 (GAS1) acts as a co-receptor to patched 1, promoting sonic hedgehog (SHH) signaling in the developing nervous system. GAS1 mutations…”
Get full text
Journal Article -
16
Impaired vitreous composition and retinal pigment epithelium function in the FoxG1::LRP2 myopic mice
Published in Biochimica et biophysica acta. Molecular basis of disease (01-06-2017)“…High myopia (HM) is one of the main causes of visual impairment and blindness all over the world and an unsolved medical problem. Persons with HM are…”
Get full text
Journal Article -
17
Sortilin regulates sorting and secretion of Sonic hedgehog
Published in Development (Cambridge) (01-11-2016)Get full text
Journal Article -
18
LRP2/megalin regulates forebrain patterning by modulating morphogen pathways
Published in Developmental biology (01-08-2010)Get full text
Journal Article -
19
The soluble intracellular domain of megalin does not affect renal proximal tubular function in vivo
Published in Kidney international (01-09-2010)“…Megalin-mediated endocytic uptake constitutes the main pathway for clearance of plasma proteins from the glomerular filtrate in proximal tubules. Little is…”
Get full text
Journal Article -
20
LRP2 in ependymal cells regulates BMP signaling in the adult neurogenic niche
Published in Development (Cambridge) (15-06-2010)Get full text
Journal Article