Article
Endocrinology & Metabolism
Elena-Raluca Nicoli, Mylene Huebecker, Sangwoo T. Han, Karolyn Garcia, Jeeva Munasinghe, Martin Lizak, Yvonne Latour, Robin Yoon, Brianna Glase, Michal Tyrlik, Morteza Peiravi, Danielle Springer, Eva H. Baker, David Priestman, Rohini Sidhu, Pamela Kell, Xuntian Jiang, Josephine Kolstad, Anna Luisa Kuhn, Mohammed Salman Shazeeb, Maria T. Acosta, Richard L. Proia, Frances M. Platt, Cynthia J. Tifft
Summary: Using CRISPR/Cas9 genome editing, a Glb1-/- mouse model was generated to evaluate characteristics of GM1 gangliosidosis. The model exhibited progressive abnormalities and cerebellar atrophy similar to patients, as well as increased levels of a novel biomarker and glycosphingolipid accumulation. This mouse model, despite being a null variant, most closely represents the less severe type II disease and will guide the development of new therapies.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Veterinary Sciences
Elizabeth Boudreau, Sharon C. Kerwin, Emily B. DuPont, Jonathan M. Levine, John F. Griffin
Summary: This study describes the diffusion-weighted MRI measurements of 22 cases of spontaneous canine cerebrovascular accident (CVA). The results show that the median ADC values in normal control tissues and CVAs were less than 1.0x10(-3) mm(2)/s. There was a good correlation between absolute and relative ADC values in CVAs. Some lesions exhibited reduced absolute ADC values but relatively unchanged relative ADC values compared to matched normal contralateral tissue. CVAs with large hemorrhagic components did not show restricted diffusion.
FRONTIERS IN VETERINARY SCIENCE
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Peter J. Niedbalski, Alexander S. Cochran, Matthew S. Freeman, Jinbang Guo, Elizabeth M. Fugate, Cory B. Davis, Jerry Dahlke, James D. Quirk, Brian M. Varisco, Jason C. Woods, Zackary I. Cleveland
Summary: The study found that cardiac motion has little impact on (129)Xe ADC measurements in mice, suggesting a similarly minimal impact in humans with reduced relative cardiac motion. Hyperpolarized (129)Xe diffusion morphometry accurately and noninvasively maps the dimensions of lung microstructure, indicating its potential for quantifying pulmonary microstructure in mouse models of lung disease.
MAGNETIC RESONANCE IN MEDICINE
(2021)
Article
Oncology
Johan Bengtsson, Erik Thimansson, Erik Baubeta, Sophia Zackrisson, Pia Charlotte Sundgren, Anders Bjartell, Despina Flondell-Site
Summary: This study aimed to investigate the correlation between ADC and ADC ratio compared to tumor aggressiveness determined by a histopathological examination. The results showed no correlation between ADC and ISUP grade and no predictive value for tumor aggressiveness could be determined. These findings contradict previous research in the field.
FRONTIERS IN ONCOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Annie Kleynerman, Jitka Rybova, Mary L. Faber, William M. McKillop, Thierry Levade, Jeffrey A. Medin
Summary: Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare autosomal-recessive disorders caused by ASAH1 gene mutations. These mutations lead to reduced ACDase activity and ceramide accumulation in tissues, resulting in diverse clinical phenotypes. Mouse models have been developed to study the consequences of ceramide accumulation and potential therapies for FD and SMA-PME.
Article
Radiology, Nuclear Medicine & Medical Imaging
Diego Hernando, Yuxin Zhang, Ali Pirasteh
Summary: Diffusion MRI plays a significant role in evaluating abdominal and pelvic disease processes, with quantitative diffusion MRI offering improved standardization of tissue characterization, despite facing challenges such as acquisition artifacts, signal modeling limitations, and biological variability.
Article
Cell Biology
Bokai Zhang, Xi Yang, Ming Li
Summary: Three recent studies have identified LYSET/TMEM251/GCAF as a key regulator of the M6P biosynthetic pathway. LYSET/TMEM251 interacts with GNPT, the enzyme responsible for M6P transfer, and is crucial for its activity and stability. Deletion of LYSET/TMEM251 impairs GNPT function and M6P modifications, resulting in mistargeting of lysosomal enzymes and the development of a lysosomal storage disease.
Article
Genetics & Heredity
Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens, Pieter A. van Doorn
Summary: This study aimed to identify early signs of diaphragmatic weakness in Pompe patients using chest MRI. Results showed that even in early-stage Pompe disease, the motion of the diaphragm is reduced and the shape is more curved during inspiration. MRI can be used to detect early signs of diaphragmatic weakness in Pompe patients, which might help to select patients for early intervention.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Neurosciences
Malabendu Jana, Debashis Dutta, Jit Poddar, Kalipada Pahan
Summary: In this study, gemfibrozil was found to alleviate disease pathology, reduce neuroinflammation, restore the level of TFEB, and decrease the accumulation of SCMAS in an animal model of JNCL. Gemfibrozil treatment also improved locomotor activities. These findings suggest that PPARa activation may be beneficial for JNCL and gemfibrozil may be repurposed for its treatment.
JOURNAL OF NEUROSCIENCE
(2023)
Article
Clinical Neurology
Naoko Inamura, Shinji Go, Takashi Watanabe, Hiroshi Takase, Nobuyuki Takakura, Atsuo Nakayama, Hirohide Takebayashi, Junko Matsuda, Yasushi Enokido
Summary: Krabbe disease, caused by the deficiency of lysosomal galactosylceramidase activity, is a demyelinating disease with early-onset cerebral demyelination. The reduced expression of microRNA-219 in KD OLs plays a role in the pathogenesis of the disease, and miR-219 may have therapeutic potential for treating KD OL pathologies.
Review
Radiology, Nuclear Medicine & Medical Imaging
Fiona M. Fennessy, Stephan E. Maier
Summary: Diffusion-weighted imaging is a reliable method to detect prostate cancer. The measurement of diffusion signal can quantitatively evaluate the extent of restricted diffusion.
EUROPEAN JOURNAL OF RADIOLOGY
(2023)
Article
Oncology
Matteo Nardini, Amedeo Capotosti, Lorenzo Nicola Mazzoni, Davide Cusumano, Luca Boldrini, Giuditta Chiloiro, Angela Romano, Vincenzo Valentini, Luca Indovina, Lorenzo Placidi
Summary: This study assessed the quality of a new DWI sequence implemented on an MR-Linac MRIdian system. The optimal acquisition parameters were evaluated and optimized to explore the possibility of implementing a clinically viable DWI acquisition protocol in a 0.35-T MR-Linac.
FRONTIERS IN ONCOLOGY
(2022)
Review
Cell Biology
Myeong Uk Kuk, Yun Haeng Lee, Jae Won Kim, Su Young Hwang, Joon Tae Park, Sang Chul Park
Summary: Lysosomal storage disease (LSD) is a genetic metabolic disorder with no effective treatment to restore normal levels. The crosstalk between lysosomes and mitochondria is crucial for cellular homeostasis, and the deficiency of lysosome enzymes in LSD leads to deterioration of the mitochondrial respiratory chain.
Review
Biochemistry & Molecular Biology
Rebecca Maechtel, Fanni Annamaria Boros, Jan Philipp Dobert, Philipp Arnold, Friederike Zunke
Summary: Lysosomes are acidic organelles responsible for recycling cellular components and can cause lysosomal dysfunction and LSDs when there is reduced enzymatic activity. Neurons are particularly susceptible to lysosomal dysfunction, leading to neurological symptoms. There are genetic associations between LSDs and Parkinson's disease, indicating common cellular mechanisms.
JOURNAL OF MOLECULAR BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Tamal Sadhukhan, Maria B. Bagh, Sriparna Sadhukhan, Abhilash P. Appu, Avisek Mondal, James R. Iiben, Tianwei Li, Steven L. Coon, Anil B. Mukherjee
Summary: Studies have shown that ablation of miR-155 in Cln1(-/-) mice does not suppress neuroinflammation. The brains of double-KO mice exhibit progressive neuroinflammatory changes virtually identical to those found in Cln1(-/-) mice.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)