Results 61 to 70 of about 2,664 (184)

Canavan disease [PDF]

, 2020
Dena Matalon, Kimberlee Michals Matalon, Reuben Matalon   +2 more
  +6 more sources

Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants

Nature Communications
Unstable proteins are prone to form non-native interactions with other proteins and thereby may become toxic. To mitigate this, destabilized proteins are targeted by the protein quality control network. Here we present systematic studies of the cytosolic
Martin Grønbæk-Thygesen, Vasileios Voutsinos, Kristoffer E. Johansson, Thea K. Schulze, Matteo Cagiada, Line Pedersen, Lene Clausen, Snehal Nariya, Rachel L. Powell, Amelie Stein, Douglas M. Fowler, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen   +12 more
doaj   +1 more source

Gene therapy for childhood neuromuscular and neurodegenerative disorders: An update

Indian Journal of Health Sciences and Biomedical Research KLEU, 2019
The central nervous system is a rather complex site for gene therapy as it contains neurons, astrocytes, and oligodendrocytes, and they have discrete and intricate interconnections between them, establishing a delicate balance.
Prateek Kumar Panda
doaj   +1 more source

Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene

Stem Cell Research
Canavan disease (CD, OMIM# 271900) is an autosomal recessive neurodegenerative disorder caused by homozygous or compound heterozygous mutations in ASPA gene, which result in catalytic deficiency of the aspartoacylase enzyme and the accumulation of N ...
Ning Liu, Yongsheng Ge, Yanan Yang, Fen Zhao, Yuqiang Lv, Zilong Li, Rui Dong, Yi Liu, Zhongtao Gai   +8 more
doaj   +1 more source

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study

BMC Medical Genetics, 2020
Background To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).
Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma   +11 more
doaj   +1 more source

Rebel responses to disasters in conflict zones: a case study of Cyclone Mocha in Myanmar

Disasters, Volume 50, Issue 1, January 2026.
Abstract Populations in conflict‐affected contexts face overlapping drivers of disaster risk. This article explores the intersection of disasters and armed conflict through an analysis of the role of non‐state armed groups, focusing on the Arakan Army (AA)'s response to Cyclone Mocha in Myanmar's Rakhine State in 2023.
Kyungmee Kim
wiley   +1 more source

Bioassembly of Region‐Specific Fibrocartilage Microtissues to Engineer Zonally Defined Meniscal Grafts

Advanced Healthcare Materials, Volume 14, Issue 32, December 19, 2025.
Meniscal microtissues are fabricated using progenitor cells isolated from the inner (iMPCs) and outer (oMPCs) regions of the meniscus. Meniscal microtissues fuse into cohesive constructs rich in sGAG and collagen. cABC treatment modulates collagen fiber formation and organization in assembled grafts.
Gabriela S. Kronemberger, Kaoutar Chattahy, Francesca D. Spagnuolo, Aliaa S. Karam, Daniel J. Kelly   +4 more
wiley   +1 more source

Anesthesia management in Canavan disease: Two case reports [PDF]

, 2017
Canavan hastalığı, aspartoaçilaz enzim eksikliği ile karakterize, otozomal resesif kalıtılan ilerleyici bir lökodisitrofidir. Canavanhastalığında makrosefali, kas güçsüzlüğü, yutma bozukluğu, gastroözefageal reflü ve epilepsi görülebilecek bulgulardandır.
Yediyıldız Bulun, Merve, Yılmaz, Resul, Tosun, Osman Mücahit, Reisli, Ruhiye, Tuncer Uzun, Sema   +4 more
core  

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Medical Sciences
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis.
Rajvi N. Thakkar, Drashti Patel, Ivelina P. Kioutchoukova, Raja Al-Bahou, Pranith Reddy, Devon T. Foster, Brandon Lucke-Wold   +6 more
doaj   +1 more source

The Economics of Liver Fibrosis Diagnosis: Systematic Review of Non‐Invasive Test Cost‐Effectiveness

Liver International Communications, Volume 6, Issue 4, December 2025.
ABSTRACT Hepatic diseases progress silently, leading to fibrosis, cirrhosis, and hepatocellular carcinoma. Although liver biopsy remains the gold standard for fibrosis assessment, it is limited by invasiveness and sampling variability. Non‐invasive liver tests (NILTs) can mitigate biopsy‐related risks.
Marilia Mastrocolla de Almeida Cardoso, Fernando Gomes Romeiro, Wendel Mombaque dos Santos, Juliana Machado‐Rugolo, Juliana Tereza Coneglian de Almeida, Lehana Thabane, Kednapa Thavorn, Jean‐Eric Tarride   +7 more
wiley   +1 more source