Hypothalamic syndrome

HL Müller, M Tauber, EA Lawson, J Özyurt… - Nature reviews Disease …, 2022 - nature.com
Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-
related injury to the hypothalamus, most commonly associated with rare, non-cancerous …

Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction

M Tauber, C Hoybye - The Lancet Diabetes & Endocrinology, 2021 - thelancet.com
Prader-Willi syndrome is a rare genetic neurodevelopmental disorder resulting from the loss
of expression of maternally imprinted genes located in the paternal chromosomal region …

Functional diversity of small nucleolar RNAs

T Bratkovič, J Božič, B Rogelj - Nucleic acids research, 2020 - academic.oup.com
Small nucleolar RNAs (snoRNAs) are short non-protein-coding RNAs with a long-
recognized role in tuning ribosomal and spliceosomal function by guiding ribose methylation …

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

FG Lafaille, O Harschnitz, YS Lee, P Zhang… - Nature medicine, 2019 - nature.com
Abstract Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is typically sporadic. Inborn
errors of TLR3-and DBR1-mediated central nervous system cell-intrinsic immunity can …

Obesity management in Prader–Willi syndrome: Current perspectives

A Crinò, D Fintini, S Bocchini… - … , metabolic syndrome and …, 2018 - Taylor & Francis
Prader–Willi syndrome (PWS) is a complex multisystem disorder due to the absent
expression of the paternally active genes in the PWS critical region on chromosome 15 …

Current and emerging therapies for managing hyperphagia and obesity in Prader‐Willi syndrome: A narrative review

Q Tan, CE Orsso, EC Deehan, L Triador… - Obesity …, 2020 - Wiley Online Library
In early childhood, individuals with Prader‐Willi syndrome (PWS) experience excess weight
gain and severe hyperphagia with food compulsivity, which often leads to early onset morbid …

Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies

F Althammer, F Muscatelli, V Grinevich… - Translational …, 2022 - nature.com
The prosocial neuropeptide oxytocin is being developed as a potential treatment for various
neuropsychiatric disorders including autism spectrum disorder (ASD). Early studies using …

SnoRNA in cancer progression, metastasis and immunotherapy response

J van der Werf, CV Chin, NI Fleming - Biology, 2021 - mdpi.com
Simple Summary A much larger number of small nucleolar RNA (snoRNA) have been found
encoded within our genomes than we ever expected to see. The activities of the snoRNAs …

[HTML][HTML] Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production

H Chen, AK Victor, J Klein, KF Tacer, DJC Tai… - JCI insight, 2020 - ncbi.nlm.nih.gov
Prader-Willi syndrome (PWS) is a developmental disorder caused by loss of maternally
imprinted genes on 15q11-q13, including melanoma antigen gene family member L2 …

A transcriptomic signature of the hypothalamic response to fasting and BDNF deficiency in Prader-Willi syndrome

EG Bochukova, K Lawler, S Croizier, JM Keogh… - Cell reports, 2018 - cell.com
Transcriptional analysis of brain tissue from people with molecularly defined causes of
obesity may highlight disease mechanisms and therapeutic targets. We performed RNA …