[HTML][HTML] Megalin and cubilin in proximal tubule protein reabsorption: from experimental models to human disease

R Nielsen, EI Christensen, H Birn - Kidney international, 2016 - Elsevier
Proximal tubule protein uptake is mediated by 2 receptors, megalin and cubilin. These
receptors rescue a variety of filtered ligands, including biomarkers, essential vitamins, and …

Shedding light on myopia by studying complete congenital stationary night blindness

C Zeitz, JE Roger, I Audo, C Michiels… - Progress in Retinal and …, 2023 - Elsevier
Myopia is the most common eye disorder, caused by heterogeneous genetic and
environmental factors. Rare progressive and stationary inherited retinal disorders are often …

Causal gene identification and desirable trait recreation in goldfish

P Yu, Y Wang, Z Li, H Jin, LL Li, X Han… - Science China Life …, 2022 - Springer
Goldfish (Carassius auratus) have long fascinated evolutionary biologists and geneticists
because of their diverse morphological and color variations. Recent genome-wide …

Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries

BR Gorman, G Voloudakis, RP Igo, T Kinzy… - Nature Genetics, 2024 - nature.com
To effectively reduce vision loss due to age-related macular generation (AMD) on a global
scale, knowledge of its genetic architecture in diverse populations is necessary. A critical …

Membrane trafficking in the retinal pigment epithelium at a glance

T Storm, T Burgoyne, CE Futter - Journal of Cell Science, 2020 - journals.biologists.com
The retinal pigment epithelium (RPE) is a highly specialised pigmented monolayer
sandwiched between the choroid and the photoreceptors in the retina. Key functions of the …

Megalin and Vitamin D Metabolism—Implications in Non-Renal Tissues and Kidney Disease

SS Khan, M Petkovich, RM Holden, MA Adams - Nutrients, 2022 - mdpi.com
Megalin is an endocytic receptor abundantly expressed in proximal tubular epithelial cells
and other calciotropic extrarenal cells expressing vitamin D metabolizing enzymes, such as …

LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease

A Christ, K Herzog, TE Willnow - Developmental dynamics, 2016 - Wiley Online Library
To fulfill their multiple roles in organ development and adult tissue homeostasis, hedgehog
(HH) morphogens act through their receptor Patched (PTCH) on target cells. However, HH …

Endocytic receptor LRP2/megalin—of holoprosencephaly and renal Fanconi syndrome

TE Willnow, A Christ - Pflügers Archiv-European Journal of Physiology, 2017 - Springer
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 or acquired …

Melanoma tumors frequently acquire LRP2/megalin expression, which modulates melanoma cell proliferation and survival rates

RK Andersen, K Hammer, H Hager… - Pigment Cell & …, 2015 - Wiley Online Library
We show that the multiligand receptor megalin, known to mediate uptake and trafficking of
nutrients and signaling molecules, is frequently expressed in malignant melanoma samples …

Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

JR Charlton, W Tan, G Daouk, L Teot… - American Journal …, 2020 - journals.physiology.org
Pathogenic variants in the LRP2 gene, encoding the multiligand receptor megalin, cause a
rare autosomal recessive syndrome: Donnai-Barrow/Facio-Oculo-Acoustico-Renal …