Childhood-onset hereditary spastic paraplegia and its treatable mimics
Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that
present with spastic diplegia are among the most common “mimics” of cerebral palsy. Early …
present with spastic diplegia are among the most common “mimics” of cerebral palsy. Early …
AP-4-mediated axonal transport controls endocannabinoid production in neurons
The adaptor protein complex AP-4 mediates anterograde axonal transport and is essential
for axon health. AP-4-deficient patients suffer from a severe neurodevelopmental and …
for axon health. AP-4-deficient patients suffer from a severe neurodevelopmental and …
[HTML][HTML] High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic …
A Saffari, B Brechmann, C Böger, WA Saber… - Nature …, 2024 - nature.com
Unbiased phenotypic screens in patient-relevant disease models offer the potential to detect
therapeutic targets for rare diseases. In this study, we developed a high-throughput …
therapeutic targets for rare diseases. In this study, we developed a high-throughput …
Systematic analysis of brain MRI findings in adaptor protein complex 4–associated hereditary spastic paraplegia
Background and Objectives AP-4-associated hereditary spastic paraplegia (AP-4-HSP:
SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary …
SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary …
[HTML][HTML] Imprinting as Basis for Complex Evolutionary Novelties in Eutherians
M Schuff, AD Strong, LK Welborn… - Biology, 2024 - mdpi.com
Simple Summary Imprinting is an epigenetic phenomenon that results in the parental-
specific expression of genes. This mechanism is important for the proper development of the …
specific expression of genes. This mechanism is important for the proper development of the …
Blended phenotype of TECPR2‐associated hereditary sensory‐autonomic neuropathy and Temple syndrome
U Zubair, K Yang, L Schierbaum, A Tam… - Annals of Clinical …, 2025 - Wiley Online Library
Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and
autosomal‐recessive diseases. We present the case of a 3‐year‐old male with a blended …
autosomal‐recessive diseases. We present the case of a 3‐year‐old male with a blended …
Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy
Objective Uniparental isodisomy can lead to blended phenotypes of imprinting disorders
and autosomal recessive diseases. To determine whether a presentation of Prader-Willi …
and autosomal recessive diseases. To determine whether a presentation of Prader-Willi …
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
A Hattori, T Okuyama, T So, M Kosuga… - Human Genome …, 2022 - nature.com
We describe a patient presenting with argininosuccinic aciduria and Silver-Russell
syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD …
syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD …
[HTML][HTML] High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated …
A Saffari, B Brechmann, C Boeger, WA Saber… - Research …, 2023 - ncbi.nlm.nih.gov
Unbiased phenotypic screens in patient-relevant disease models offer the potential to detect
novel therapeutic targets for rare diseases. In this study, we developed a high-throughput …
novel therapeutic targets for rare diseases. In this study, we developed a high-throughput …