The neurochaperonopathies: Anomalies of the chaperone system with pathogenic effects in neurodegenerative and neuromuscular disorders
F Scalia, AM Vitale, R Santonocito… - Applied Sciences, 2021 - mdpi.com
The chaperone (or chaperoning) system (CS) constitutes molecular chaperones, co-
chaperones, and chaperone co-factors, interactors and receptors, and its canonical role is …
chaperones, and chaperone co-factors, interactors and receptors, and its canonical role is …
Impaired mitochondrial mobility in Charcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is a progressive, peripheral neuropathy and the most
commonly inherited neurological disorder. Clinical manifestations of CMT mutations are …
commonly inherited neurological disorder. Clinical manifestations of CMT mutations are …
KIF1Bβ mutations detected in hereditary neuropathy impair IGF1R transport and axon growth
KIF1Bβ is a kinesin-3 family anterograde motor protein essential for neuronal development,
viability, and function. KIF1Bβ mutations have previously been reported in a limited number …
viability, and function. KIF1Bβ mutations have previously been reported in a limited number …
Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case …
M Katz, M Davis, FC Garton, R Henderson… - Journal of the …, 2020 - Elsevier
Background Heat shock protein beta-1 (HSPB1) is a ubiquitously expressed molecular
chaperone that is important in protecting cells against cellular injury. Mutations in this protein …
chaperone that is important in protecting cells against cellular injury. Mutations in this protein …
Comparison of direct sequencing, real-time PCR-high resolution melt (PCR-HRM) and PCR-restriction fragment length polymorphism (PCR-RFLP) analysis for …
WY Fong, CC Ho, WT Poon - Diagnostics, 2017 - mdpi.com
Thiopurine intolerance and treatment-related toxicity, such as fatal myelosuppression, is
related to non-function genetic variants encoding thiopurine S-methyltransferase (TPMT) …
related to non-function genetic variants encoding thiopurine S-methyltransferase (TPMT) …
Novel Tetra-Primer ARMS-PCR Assays for Thiopurine Intolerance Susceptibility Mutations NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C) in East Asians
CC Ho, WY Fong, YH Lee, WT Poon - Genes, 2017 - mdpi.com
Thiopurines are clinically useful in the management of diverse immunological and malignant
conditions. Nevertheless, these purine analogues can cause lethal myelosuppression …
conditions. Nevertheless, these purine analogues can cause lethal myelosuppression …
A novel method that allows SNP discrimination with 160: 1 ratio for biosensors based on DNA-DNA hybridization
Highly sensitive (high SBR) and highly specific (high SNP discrimination ratio) DNA
hybridization is essential for a biosensor with clinical application. Herein, we propose a …
hybridization is essential for a biosensor with clinical application. Herein, we propose a …
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
CC Ho, LLY Tsung, KT Liu, WT Poon - BMC Medical Genetics, 2018 - Springer
Background Mucolipidosis alpha/beta is an inborn error of metabolism characterized by
deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are …
deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are …
[HTML][HTML] Мутация в гене CREBBP у девочки с синдромом ходьбы на носках: клинический случай
Д Помарино, А Трен, К Ростази… - Вопросы современной …, 2021 - cyberleninka.ru
Обоснование. Патогенные варианты гена CREBBP выявлены у пациентов с
синдромами Рубинштейна-Тейби и Менке-Хеннекама, однако симптом ходьбы на …
синдромами Рубинштейна-Тейби и Менке-Хеннекама, однако симптом ходьбы на …
Mutation in the CREBBP gene in the girl with toe walking syndrome: clinical case
D Pomarino, A Thren, JR Thren, K Rostasy… - Current …, 2021 - vsp.spr-journal.ru
Мутация в гене CREBBP у девочки с синдромом ходьбы на носках: клинический Page 1 310
Мутация в гене CREBBP у девочки с синдромом ходьбы на носках: клинический случай …
Мутация в гене CREBBP у девочки с синдромом ходьбы на носках: клинический случай …