Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
International consortia collaborating on the genetics of rare diseases have significantly
boosted our understanding of inherited neurological disorders. Historical clinical …
boosted our understanding of inherited neurological disorders. Historical clinical …
Deubiquitinases in muscle physiology and disorders
CS Olie, DP O'Brien, HBL Jones, Z Liang… - Biochemical Society …, 2024 - portlandpress.com
In vivo, muscle and neuronal cells are post-mitotic, and their function is predominantly
regulated by proteostasis, a multilayer molecular process that maintains a delicate balance …
regulated by proteostasis, a multilayer molecular process that maintains a delicate balance …
Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination
P Ayuso-García, A Sánchez-Rueda… - Science …, 2024 - science.org
Myelination is essential for neuronal function and health. In peripheral nerves,> 100
causative mutations have been identified that cause Charcot-Marie-Tooth disease, a …
causative mutations have been identified that cause Charcot-Marie-Tooth disease, a …
Elevated Cerebrospinal Fluid Ubiquitin Carboxyl‐Terminal Hydrolase Isozyme L1 in Asymptomatic C9orf72 Hexanucleotide Repeat Expansion Carriers
Objective To identify biochemical changes in individuals at higher risk of developing
amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD) via C9orf72 …
amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD) via C9orf72 …
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
V Cipriani, L Vestito, EF Magavern, JOB Jacobsen… - medRxiv, 2023 - medrxiv.org
To discover rare disease-gene associations, we developed a gene burden analytical
framework and applied it to rare, protein-coding variants from whole genome sequencing of …
framework and applied it to rare, protein-coding variants from whole genome sequencing of …
A novel proteomic signature of osteoclast differentiation unveils the deubiquitinase UCHL1 as a necessary osteoclastogenic driver
M Materozzi, M Resnati, C Facchi, M Trudu… - Scientific Reports, 2024 - nature.com
Bone destruction, a major source of morbidity, is mediated by heightened differentiation and
activity of osteoclasts (OC), highly specialized multinucleated myeloid cells endowed with …
activity of osteoclasts (OC), highly specialized multinucleated myeloid cells endowed with …
The evolving spectrum of complex inherited neuropathies
AM Rossor, S Haddad, MM Reilly - Current Opinion in Neurology, 2024 - journals.lww.com
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issue alertsGet alerts Secondary Logo Journal Logo Advanced Search Toggle navigation …
Altered Protein Dynamics and a More Reactive Catalytic Cysteine in a Neurodegeneration-associated UCHL1 Mutant
A mutant of ubiquitin C-terminal hydrolase L1 (UCHL1) detected in early-onset
neurodegenerative patients, UCHL1 R178Q, showed higher catalytic activity than wild-type …
neurodegenerative patients, UCHL1 R178Q, showed higher catalytic activity than wild-type …
[HTML][HTML] PGP9. 5 expression in human tumors: A tissue microarray study on 13,920 tumors from 120 different tumor entities
S Scherzai, M Lennartz, F Jacobsen… - … -Research and Practice, 2024 - Elsevier
Abstract The protein gene product 9.5 (PGP9. 5), also termed ubiquitin C-terminal hydrolase
L1 (UCH-L1) is an important component of the ubiquitination/deubiquitination system and …
L1 (UCH-L1) is an important component of the ubiquitination/deubiquitination system and …
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline
J Park, M Sturm, O Seibel-Kelemen, S Ossowski… - Genes, 2024 - mdpi.com
The potential of genome sequencing (GS), which allows detection of almost all types of
genetic variation across nearly the entire genome of an individual, greatly expands the …
genetic variation across nearly the entire genome of an individual, greatly expands the …