Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity
PLM Dahia - Nature Reviews Cancer, 2014 - nature.com
The neuroendocrine tumours pheochromocytomas and paragangliomas carry the highest
degree of heritability in human neoplasms, enabling genetic alterations to be traced to …
degree of heritability in human neoplasms, enabling genetic alterations to be traced to …
[HTML][HTML] GDNF synthesis, signaling, and retrograde transport in motor neurons
AF Cintrón-Colón, G Almeida-Alves, AM Boynton… - Cell and tissue …, 2020 - Springer
Glial cell line–derived neurotrophic factor (GDNF) is a 134 amino acid protein belonging in
the GDNF family ligands (GFLs). GDNF was originally isolated from rat glial cell lines and …
the GDNF family ligands (GFLs). GDNF was originally isolated from rat glial cell lines and …
[HTML][HTML] Depletion of the AD risk gene SORL1 selectively impairs neuronal endosomal traffic independent of amyloidogenic APP processing
A Knupp, S Mishra, R Martinez, JE Braggin, M Szabo… - Cell reports, 2020 - cell.com
SORL1/SORLA is a sorting receptor involved in retromer-related endosomal traffic and an
Alzheimer's disease (AD) risk gene. Using CRISPR-Cas9, we deplete SORL1 in hiPSCs to …
Alzheimer's disease (AD) risk gene. Using CRISPR-Cas9, we deplete SORL1 in hiPSCs to …
[HTML][HTML] The Alzheimer's gene SORL1 is a regulator of endosomal traffic and recycling in human neurons
S Mishra, A Knupp, MP Szabo, CA Williams… - Cellular and Molecular …, 2022 - Springer
Abstract Background Loss of the Sortilin-related receptor 1 (SORL1) gene seems to act as a
causal event for Alzheimer's disease (AD). Recent studies have established that loss of …
causal event for Alzheimer's disease (AD). Recent studies have established that loss of …
[HTML][HTML] The role of Alzheimer's disease risk genes in endolysosomal pathways
There is ample pathological and biological evidence for endo-lysosomal dysfunction in
Alzheimer's disease (AD) and emerging genetic studies repeatedly implicate endo …
Alzheimer's disease (AD) and emerging genetic studies repeatedly implicate endo …
[HTML][HTML] SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network
C Hung, E Tuck, V Stubbs, SJ van der Lee, C Aalfs… - Cell reports, 2021 - cell.com
Dysfunction of the endolysosomal-autophagy network is emerging as an important
pathogenic process in Alzheimer's disease. Mutations in the sorting receptor-encoding gene …
pathogenic process in Alzheimer's disease. Mutations in the sorting receptor-encoding gene …
[HTML][HTML] Late-onset Alzheimer's disease genes and the potentially implicated pathways
SL Rosenthal, MI Kamboh - Current genetic medicine reports, 2014 - Springer
Late-onset Alzheimer's disease (LOAD) is a devastating neurodegenerative disease with no
effective treatment or cure. In addition to APOE, recent large genome-wide association …
effective treatment or cure. In addition to APOE, recent large genome-wide association …
[HTML][HTML] Finding memo: versatile interactions of the VPS10p-Domain receptors in Alzheimer's disease
A Salasova, G Monti, OM Andersen… - Molecular …, 2022 - Springer
The family of VPS10p-Domain (D) receptors comprises five members named SorLA, Sortilin,
SorCS1, SorCS2 and SorCS3. While their physiological roles remain incompletely resolved …
SorCS1, SorCS2 and SorCS3. While their physiological roles remain incompletely resolved …
[HTML][HTML] The role of genetic risk factors of Alzheimer's disease in synaptic dysfunction
WY Fu, NY Ip - Seminars in Cell & Developmental Biology, 2023 - Elsevier
Alzheimer's disease (AD) is a neurodegenerative disease characterized by the progressive
deterioration of cognitive functions. Due to the extended global life expectancy, the …
deterioration of cognitive functions. Due to the extended global life expectancy, the …
[HTML][HTML] GDNF–Ret signaling in midbrain dopaminergic neurons and its implication for Parkinson disease
ER Kramer, B Liss - Febs Letters, 2015 - Elsevier
Glial cell line-derived neurotrophic factor (GDNF) and its canonical receptor Ret can signal
together or independently to fulfill many important functions in the midbrain dopaminergic …
together or independently to fulfill many important functions in the midbrain dopaminergic …