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Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia

Journal of Genetics and Genomics 2025年

作者： Wei, Qiao Fan, Wenlu Li, Hong-Fu Wang, Pei-Shan Xu, Man Dong, Hai-Lin Yu, Hao Lyu, Jialan Luo, Wen-Jiao Chen, Dian-Fu Ge, Wanzhong Wu, Zhi-Ying Department of Medical Genetics and Center for Rare Diseases Second Affiliated Hospital Zhejiang University School of Medicine and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation Zhejiang Hangzhou 310009 China Nanhu Brain-computer Interface Institute Zhejiang Hangzhou 311100 China Division of Human Reproduction and Developmental Genetics Women's Hospital Zhejiang University School of Medicine Zhejiang Hangzhou 310006 China MOE Frontier Science Center for Brain Research and Brain-Machine Integration School of Brain Science and Brain Medicine Zhejiang University Zhejiang Hangzhou 310012 China CAS Center for Excellence in Brain Science and Intelligence Technology Shanghai 200031 China

Hereditary spastic paraplegias (HSPs) refer to a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by the degeneration of motor neurons. To date, a significant number of patients still have not received a definite genetic diagnosis. Therefore, identifying unreported causative genes continues to be of great importance. Here, we perform whole exome sequencing in a cohort of Chinese HSP patients. Three homozygous variants (p.L604W, p.S517F, and p.T984A) within the sterol regulatory element-binding factor 2 (SREBF2) gene are identified in one autosomal recessive family and two sporadic patients, respectively. Co-segregation is confirmed by Sanger sequencing in all available members. The three variants are rare in the public or in-house database and are predicted to be damaging. The biological impacts of variants in SREBF2 are examined by functional experiments in patient-derived fibroblasts and Drosophila. We find that the variants upregulate cellular cholesterol due to the overactivation of SREBP2, eventually impairing the autophagosomal and lysosomal functions. The overexpression of the mature form of SREBP2 leads to locomotion defects in Drosophila. Our findings identify SREBF2 as a causative gene for HSP and highlight the impairment of cholesterol as a critical pathway for HSP. © 2025 The Authors

关键词： Causative gene Cholesterol Hereditary spastic paraplegia Locomotion defects SREBF2

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Forebrain neural progenitors effectively integrate into host brain circuits and improve neural function after ischemic stroke

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Nature communications 2025年第1期16卷 5132页

作者： Xiao He Jiadong Chen Yan Zhong Peili Cen Li Shen Fei Huang Jing Wang Chentao Jin Rui Zhou Xiaohui Zhang Anxin Wang Jing Fan Shuang Wu Mengjiao Tu Xiyi Qin Xiaoyun Luo Yu Zhou Jieqiao Peng Youyou Zhou A Cahid Civelek Mei Tian Hong Zhang Department of Nuclear Medicine Zhejiang Cancer Hospital Hangzhou Institute of Medicine Chinese Academy of Sciences Hangzhou 310022 China. Department of Radiology Affiliated Hangzhou First People's Hospital Westlake University School of Medicine Hangzhou 310006 China. Department of Nuclear Medicine and PET Center The Second Affiliated Hospital of Zhejiang University School of Medicine Hangzhou 310009 Zhejiang China. Key Laboratory of Medical Molecular Imaging of Zhejiang Province Hangzhou 310009 China. Department of Neurobiology Departments of Neurosurgery and Neurology of the Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou 310058 China. Nanhu Brain-computer Interface Institute Hangzhou 311100 China. NHC and CAMS Key Laboratory of Medical Neurobiology MOE Frontier Science Center for Brain Research and Brain-machine Integration School of Brain Science and Brain Medicine Zhejiang University Hangzhou 310058 China. The MOE Key Laboratory of Biosystems Homeostasis & Protection and Zhejiang Provincial Key Laboratory for Cancer Molecular Cell Biology Life Sciences Institute Zhejiang University Hangzhou Zhejiang 310009 China. Hopstem Bioengineering Co. Ltd. Hangzhou 310009 China. Department of Radiology and Radiological Science Johns Hopkins Medicine Baltimore MD 21287 USA. National Institutes of Health Clinical Center Radiology and Imaging Sciences Bethesda Maryland USA. Department of Nuclear Medicine and PET Center The Second Affiliated Hospital of Zhejiang University School of Medicine Hangzhou 310009 Zhejiang China. tianmei@***. Key Laboratory of Medical Molecular Imaging of Zhejiang Province Hangzhou 310009 China. tianmei@***. Department of Nuclear Medicine and PET Center Huashan Hospital and Human Phenome Institute Fudan University Shanghai 200235 China. tianmei@***. Department of Nuclear Medicine Zhejiang Cancer Hospital Hangzhou Institute of Medicine Chinese Academy of Sciences Hangzhou 310022 China. hzhang21@zju.edu

human cortical neural progenitor cell transplantation holds significant potential in cortical stroke treatment by replacing lost cortical neurons and repairing damaged brain circuits. However, commonly utilized human cortical neural progenitors are limited in yield a substantial proportion of diverse cortical neurons and require an extended period to achieve functional maturation and synaptic integration, thereby potentially diminishing the optimal therapeutic benefits of cell transplantation for cortical stroke. Here, we generated forkhead box G1 (FOXG1)-positive forebrain progenitors from human inducible pluripotent stem cells, which can differentiate into diverse and balanced cortical neurons including upper- and deep-layer excitatory and inhibitory neurons, achieving early functional maturation simultaneously in vitro. Furthermore, these FOXG1 forebrain progenitor cells demonstrate robust cortical neuronal differentiation, rapid functional maturation and efficient synaptic integration after transplantation into the sensory cortex of stroke-injured adult rats. Notably, we have successfully utilized the non-invasive F-SynVesT-1 PET imaging technique to assess alterations in synapse count before and after transplantation therapy of FOXG1 progenitors in vivo. Moreover, the transplanted FOXG1 progenitors improve sensory and motor function recovery following stroke. These findings provide systematic and compelling evidence for the suitability of these FOXG1 progenitors for neuronal replacement in ischemic cortical stroke.

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BCI and motion capture technologies for rehabilitation based on videogames 4

BCI and motion capture technologies for rehabilitation based...

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4th IEEE Global humanitarian Technology Conference, GHTC 2014

作者： Muñoz, John E. Chavarriaga, Ricardo Villada, Julian F. Lopez, David Sebastian Human Computer Interaction Group Colombia Maestría en Ingeniería Eléctrica Universidad Tecnológica de Pereira Pereira Colombia Non-Invasive Brain Machine Interface Center for Neuroprosthetics Ecole Polytechnique Fédérale de Lausanne Lausanne Switzerland

ISBN: (纸本)9781479971930

This paper presents a cost-effective rehabilitation system based on videogames and multimodal recordings of physiological signals. The system targets patients with sensory-motor impairments resulting from lesions of the central nervous system (e.g., due to stroke or traumatic injuries). It relies on a wireless low-cost hybrid interface combining a consumer-level electroencephalographic (EEG) device and the Kinect sensor to record the motion capture information. Thus providing quantitative physiological measures to support medical evaluations and improve the personalization of health service. Furthermore, through the design of specialized videogames for rehabilitation, this approach aim at increasing the patient's motivation, potentially improving the service quality and the recovery process. The system is currently being used in a rehabilitation center in Colombia by patients with upper limb paralysis and balance disorders after stroke or traumaticuries. Initial results show significant improvements in the mobility of affected joints, improved adherence to treatments by patients, and high acceptability by therapists and end-users. © 2014 IEEE.

关键词： Brain computer interface

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BCI and motion capture technologies for rehabilitation based on videogames

BCI and motion capture technologies for rehabilitation based...

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IEEE Global humanitarian Technology Conference (GHTC)

作者： John E. Muñoz Ricardo Chavarriaga Julian F. Villada David SebastianLopez Universidad Tecnologica de Pereira Pereira CO Defitech Chair in Non-Invasive Brain Machine Interface EcolePolytechniqueFédérale de Lausanne Lausanne Switzerland Human Computer Interaction Group Universidad Tecnológica de Pereira Pereira Colombia

关键词： Biomechanics Physiology Medical treatment Biomedical imaging

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MPEG-V standardization for haptically interacting with virtual worlds

MPEG-V standardization for haptically interacting with virtu...

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World Haptics Conference

作者： Jaeha Kim Yeongmi Kim Jeha Ryu Gwangju Institute of Science and Technology Human-Machine-Computer Interface Laboratory GIST Gwangju Korea

With rapid developments in virtual reality (VR), haptics, communications technology and digital multimedia, there has been increasing demand for creation and widespread development of more realistic or immersive display systems. Consumers are eager to experience engrossing contents capable of providing presence, beyond traditional audio-visual media. In response to this demand, tactile and haptic interaction is also becoming increasingly important. Recently, MPEG-V standard (ISO/IEC 23005) has been published. The MPEG-V provides architecture and metadata for interaction and interoperability between virtual worlds and real worlds through various sensors and actuators. The aim of this paper is to provide an overview of MPEG-V standard, particularly regarding haptic and tactile interactions.

关键词： Haptic interfaces Transform coding Standards Sensors Actuators Force Media

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Parametric design of an excitation pattern for smooth vibrotactile flow on thin plates

Parametric design of an excitation pattern for smooth vibrot...

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2012 IEEE Haptics Symposium, HAPTICS 2012

作者： Kang, J. Cho, K. Ryu, J. Human-Machine-Computer Interface Laboratory Department of Mechatronics GIST Gwangju Korea Republic of Department of Interaction Science Sungkyunkwan University Seoul Korea Republic of

ISBN: (纸本)9781467308090

In the previous research, the vibrotactile flow that can be generated by the excitation pattern utilizing structural resonance phenomena of a thin plate was smoother than the vibrotactile flow generated by the conventional apparent tactile movement and phantom sensation methods. This paper further investigates effects of three design parameters (signal-duration, time-interval between the two actuating signals, cutoff-time) in the excitation pattern on the smoothness of the vibrotactile flow. User study results show that the time-interval between the two actuating signals is the most important parameter while the signal-duration is the second. This fact can be effectively used when designing an excitation pattern that can generate smoother vibrotactile flow. © 2012 IEEE.

关键词： Plates (structural components)

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Development and evaluation of an in-vehicle haptic navigation system 1

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4th International Conference on Information Technology Convergence and Services, ITCS 2012 and 9th FTRA International Conference on Secure and Trust Computing, Data Management, and Applications, STA 2012

作者： Hwang, Jungsik Chung, Kyungmi Hyun, Jinshil Ryu, Jeha Cho, Kwangsu Cognitive Engineering Laboratory Department of Interaction Science Sungkyunkwan University Seoul Korea Republic of Human-Machine-Computer Interface Laboratory Department of Mechatronics Gwangju Institute of Science and Technology Gwangju Korea Republic of

ISBN: (数字)9789400750838

ISBN: (纸本)9789400750821

In this paper, we proposed an in-vehicle haptic navigation system to overcome some limitations of current in-vehicle navigation aid systems. The haptic interface using vibrotactile signals with a 5-by-5 tactor array was installed on the back of the chair. To evaluate the effectiveness of the proposed system in various cognitive load conditions, we implemented a visual search experiment using a flicker paradigm. Sixteen participants were recruited to evaluate the proposed haptic navigation system. The two independent variables were validity (valid cue, invalid cue, and no cueing) and cognitive load levels (high and low) of search tasks. Despite of the cognitive load levels, the valid cue conditions elicited shorter response times than invalid cue and no cueing conditions. The result strongly supports the effectiveness of the proposed in-vehicle navigation systems. © 2012 Springer Science+Business Media.

关键词： Haptic interfaces

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Exploring the impact of visual-haptic registration accuracy in augmented reality

Exploring the impact of visual-haptic registration accuracy ...

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International Conference on Haptics: Perception, Devices, Mobility, and Communication, EuroHaptics 2012

作者： Lee, Chang-Gyu Oakley, Ian Ryu, Jeha Human-Machine-Computer Interface Lab. Gwangju Institute of Science and Technology 1 Oryong-dong Buk-gu Gwangju 500-712 Korea Republic of M-ITI University of Madeira Funchal Portugal

In augmented reality (AR) systems featuring visual and haptic cues it is important to maintain a close match between the presented stimuli in order to create realistic environments. What is felt must match what is seen. However, this is a challenging task - AR systems inherently feature noise. This paper describes a study to explore the effect of disparities between visual and haptic cues in a targeting task in an AR environment. The results reveal that participants were highly sensitive to discrepancies between the modalities;performance degraded with registration errors of as low as 2 mm, suggesting this is practical limit for AR systems. Future work will explore how haptic rendering parameters such as cursor size and stiffness affect these results. © 2012 Springer-Verlag.

关键词： Augmented reality

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Parametric design of an excitation pattern for smooth vibrotactile flow on thin plates

Parametric design of an excitation pattern for smooth vibrot...

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International Symposium on Haptic interfaces for Virtual Environment and Teleoperator Systems (HAPTICS)

作者： J. Kang K. Cho J. Ryu Human-Machine-Computer Interface Laboratory Department of Mechatronics GIST Gwangju South Korea Department of Interaction Science Sungkyunkwan University Seoul South Korea

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Effects of different haptic modalities on students' understanding of physical phenomena

Effects of different haptic modalities on students' understa...

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2011 IEEE World Haptics Conference, WHC 2011

作者： Kim, Yeongmi Park, Sunyoung Kim, Hyungon Jeong, Hyerin Ryu, Jeha Human Machine Computer Interface Laboratory Gwangju Institute of Science and Technology Gwangju Korea Republic of Gwangju Science High School Gwangju Korea Republic of

ISBN: (纸本)9781457702976

This paper describes investigation on the effectiveness of the haptic feedback in science education, involving 8th grade middle school students. For that study haptically enhanced presentations of the Coriolis Effect have been created based on MPEG-4 framework allowing creating, transmitting and displaying haptically enhanced multimedia educational contents. A special focus of the work is the comparison of the effect of different modalities - i.e. audiovisual feedback only, audiovisual feedback with tactile feedback and audiovisual feedback with kinesthetic feedback - on the learning. The result showed that multimedia contents including haptic feedback can improve student understanding of the Coriolis Effect better than when only the audiovisual feedback content was provided. However, there was no significant difference between tactile and kinesthetic modalities. © 2011 IEEE.

关键词： Students

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