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Article: Sphingolipids in neurodegenerative diseases.

Pan, Xueyang / Dutta, Debdeep / Lu, Shenzhao / Bellen, Hugo J

2023 Volume 17, Page(s) 1137893

Abstract: Neurodegenerative Diseases (NDDs) are a group of disorders that cause progressive deficits of neuronal function. Recent evidence argues that sphingolipid metabolism is affected in a surprisingly broad set of NDDs. These include some lysosomal storage ... ...

Abstract	Neurodegenerative Diseases (NDDs) are a group of disorders that cause progressive deficits of neuronal function. Recent evidence argues that sphingolipid metabolism is affected in a surprisingly broad set of NDDs. These include some lysosomal storage diseases (LSDs), hereditary sensory and autonomous neuropathy (HSAN), hereditary spastic paraplegia (HSP), infantile neuroaxonal dystrophy (INAD), Friedreich's ataxia (FRDA), as well as some forms of amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD). Many of these diseases have been modeled in
Language	English
Publishing date	2023-02-16
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2411902-7
ISSN	1662-453X ; 1662-4548
ISSN (online)	1662-453X
ISSN	1662-4548
DOI	10.3389/fnins.2023.1137893
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Article: 'Fly-ing' from rare to common neurodegenerative disease mechanisms.

Ma, Mengqi / Moulton, Matthew J / Lu, Shenzhao / Bellen, Hugo J

Trends in genetics : TIG

2022 Volume 38, Issue 9, Page(s) 972–984

Abstract: Advances in genome sequencing have enabled researchers and clinicians to probe vast numbers of human variants to distinguish pathogenic from benign variants. Model organisms have been crucial in variant assessment and in delineating the molecular ... ...

Abstract	Advances in genome sequencing have enabled researchers and clinicians to probe vast numbers of human variants to distinguish pathogenic from benign variants. Model organisms have been crucial in variant assessment and in delineating the molecular mechanisms of some of the diseases caused by these variants. The fruit fly, Drosophila melanogaster, has played a valuable role in this endeavor, taking advantage of its genetic technologies and established biological knowledge. We highlight the utility of the fly in studying the function of genes associated with rare neurological diseases that have led to a better understanding of common disease mechanisms. We emphasize that shared themes emerge among disease mechanisms, including the importance of lipids, in two prominent neurodegenerative diseases: Alzheimer's disease (AD) and Parkinson's disease (PD).
MeSH term(s)	Alzheimer Disease/genetics ; Animals ; Disease Models, Animal ; Drosophila ; Drosophila melanogaster/genetics ; Humans ; Neurodegenerative Diseases/genetics ; Parkinson Disease/genetics
Language	English
Publishing date	2022-04-25
Publishing country	England
Document type	Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	619240-3
ISSN	1362-4555 ; 0168-9525 ; 0168-9479
ISSN (online)	1362-4555
ISSN	0168-9525 ; 0168-9479
DOI	10.1016/j.tig.2022.03.018
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Zs.A 2272: Show issues

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Article ; Online: Finding the 'Guilty' Gene Variant of Sporadic Parkinson's Disease Via CRISPR/Cas9.

Lu, Shenzhao / Zhou, Jiawei

Neuroscience bulletin

2017 Volume 33, Issue 1, Page(s) 115–117

Abstract: Parkinson's disease (PD) is a common neurodegenerative disorder affecting millions of people worldwide, but its cause and pathogenesis are still not fully understood. Earlier studies have shown that SNCA, which encodes α-synuclein, is one of the key ... ...

Abstract	Parkinson's disease (PD) is a common neurodegenerative disorder affecting millions of people worldwide, but its cause and pathogenesis are still not fully understood. Earlier studies have shown that SNCA, which encodes α-synuclein, is one of the key genes associated with PD. Single-nucleotide polymorphism (SNP) variants of SNCA are thought to be correlated with disease onset. The underlying mechanisms however are enigmatic. A recent study published in Nature revealed that one of the SNP variants in the SNCA non-coding element elevated α-synuclein expression in human neurons by reducing the binding efficiency of transcription factors, demonstrating a previously uncharted role for SNPs in the pathogenesis of PD.
MeSH term(s)	Genetic Association Studies ; Genetic Enhancement ; Genetic Predisposition to Disease/genetics ; Humans ; Parkinson Disease/genetics ; Polymorphism, Single Nucleotide/genetics ; Transcription Factors/genetics ; Transcription Factors/metabolism ; alpha-Synuclein/genetics
Chemical Substances	SNCA protein, human ; Transcription Factors ; alpha-Synuclein
Language	English
Publishing date	2017-02
Publishing country	Singapore
Document type	Journal Article
ZDB-ID	2419741-5
ISSN	1995-8218 ; 1673-7067
ISSN (online)	1995-8218
ISSN	1673-7067
DOI	10.1007/s12264-016-0065-2
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Article: Allelic strengths of encephalopathy-associated

Pan, Xueyang / Alvarez, Albert N / Ma, Mengqi / Lu, Shenzhao / Crawford, Michael W / Briere, Lauren C / Kanca, Oguz / Yamamoto, Shinya / Sweetser, David A / Wilson, Jenny L / Napier, Ruth J / Pruneda, Jonathan N / Bellen, Hugo J

medRxiv : the preprint server for health sciences

2023

Abstract: Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and ER stress. Variants in ... ...

Abstract	Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and ER stress. Variants in the
Language	English
Publishing date	2023-10-02
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.07.17.23292782
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Article ; Online: Allelic strengths of encephalopathy-associated

eLife

2023 Volume 12

Abstract: Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and endoplasmic reticulum stress. Variants in ... ...

Abstract	Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and endoplasmic reticulum stress. Variants in the
MeSH term(s)	Humans ; Brain Diseases/genetics ; Intellectual Disability/genetics ; Movement Disorders/genetics ; Mutation, Missense ; Ubiquitin-Activating Enzymes/genetics ; Ubiquitin-Activating Enzymes/metabolism ; Drosophila/genetics ; Drosophila Proteins/genetics
Chemical Substances	UBA5 protein, human ; Ubiquitin-Activating Enzymes (EC 6.2.1.45) ; Drosophila Proteins
Language	English
Publishing date	2023-12-11
Publishing country	England
Document type	Journal Article
ZDB-ID	2687154-3
ISSN	2050-084X ; 2050-084X
ISSN (online)	2050-084X
ISSN	2050-084X
DOI	10.7554/eLife.89891
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Article ; Online: Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation.

Chung, Hyung-Lok / Ye, Qi / Park, Ye-Jin / Zuo, Zhongyuan / Mok, Jung-Wan / Kanca, Oguz / Tattikota, Sudhir Gopal / Lu, Shenzhao / Perrimon, Nobert / Lee, Hyun Kyoung / Bellen, Hugo J

Cell metabolism

2023 Volume 35, Issue 5, Page(s) 855–874.e5

Abstract: VLCFAs (very-long-chain fatty acids) are the most abundant fatty acids in myelin. Hence, during demyelination or aging, glia are exposed to higher levels of VLCFA than normal. We report that glia convert these VLCFA into sphingosine-1-phosphate (S1P) via ...

Abstract	VLCFAs (very-long-chain fatty acids) are the most abundant fatty acids in myelin. Hence, during demyelination or aging, glia are exposed to higher levels of VLCFA than normal. We report that glia convert these VLCFA into sphingosine-1-phosphate (S1P) via a glial-specific S1P pathway. Excess S1P causes neuroinflammation, NF-κB activation, and macrophage infiltration into the CNS. Suppressing the function of S1P in fly glia or neurons, or administration of Fingolimod, an S1P receptor antagonist, strongly attenuates the phenotypes caused by excess VLCFAs. In contrast, elevating the VLCFA levels in glia and immune cells exacerbates these phenotypes. Elevated VLCFA and S1P are also toxic in vertebrates based on a mouse model of multiple sclerosis (MS), experimental autoimmune encephalomyelitis (EAE). Indeed, reducing VLCFA with bezafibrate ameliorates the phenotypes. Moreover, simultaneous use of bezafibrate and fingolimod synergizes to improve EAE, suggesting that lowering VLCFA and S1P is a treatment avenue for MS.
MeSH term(s)	Mice ; Animals ; Fingolimod Hydrochloride/pharmacology ; Fingolimod Hydrochloride/therapeutic use ; Immunosuppressive Agents/pharmacology ; Neuroinflammatory Diseases ; Bezafibrate ; Propylene Glycols/pharmacology ; Encephalomyelitis, Autoimmune, Experimental/drug therapy ; Encephalomyelitis, Autoimmune, Experimental/metabolism ; Multiple Sclerosis ; Neuroglia/metabolism ; Fatty Acids
Chemical Substances	Fingolimod Hydrochloride (G926EC510T) ; sphingosine 1-phosphate (26993-30-6) ; Immunosuppressive Agents ; Bezafibrate (Y9449Q51XH) ; Propylene Glycols ; Fatty Acids
Language	English
Publishing date	2023-04-20
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2176834-1
ISSN	1932-7420 ; 1550-4131
ISSN (online)	1932-7420
ISSN	1550-4131
DOI	10.1016/j.cmet.2023.03.022
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Article: De novo

medRxiv : the preprint server for health sciences

2024

Abstract: Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate into inositol 1,4,5-trisphosphate and diacylglycerol, important signaling molecules involved in many cellular processes. ...

Abstract	Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate into inositol 1,4,5-trisphosphate and diacylglycerol, important signaling molecules involved in many cellular processes.
Language	English
Publishing date	2024-01-09
Publishing country	United States
Document type	Preprint
DOI	10.1101/2024.01.08.23300523
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Article ; Online: Inhibition of astrocytic DRD2 suppresses CNS inflammation in an animal model of multiple sclerosis.

Lu, Shen-Zhao / Wu, Yue / Guo, Yong-Shun / Liang, Pei-Zhou / Yin, Shu / Yin, Yan-Qing / Zhang, Xiu-Li / Liu, Yan-Fang / Wang, Hong-Yan / Xiao, Yi-Chuan / Liang, Xin-Miao / Zhou, Jia-Wei

The Journal of experimental medicine

2022 Volume 219, Issue 9

Abstract: Astrocyte activation is associated with progressive inflammatory demyelination in multiple sclerosis (MS). The molecular mechanisms underlying astrocyte activation remain incompletely understood. Recent studies have suggested that classical ... ...

Abstract	Astrocyte activation is associated with progressive inflammatory demyelination in multiple sclerosis (MS). The molecular mechanisms underlying astrocyte activation remain incompletely understood. Recent studies have suggested that classical neurotransmitter receptors are implicated in the modulation of brain innate immunity. We investigated the role of dopamine signaling in the process of astrocyte activation. Here, we show the upregulation of dopamine D2 receptor (DRD2) in reactive astrocytes in MS brain and noncanonical role of astrocytic DRD2 in MS pathogenesis. Mice deficient in astrocytic Drd2 exhibit a remarkable suppression of reactive astrocytes and amelioration of experimental autoimmune encephalomyelitis (EAE). Mechanistically, DRD2 regulates the expression of 6-pyruvoyl-tetrahydropterin synthase, which modulates NF-κB activity through protein kinase C-δ. Pharmacological blockade of astrocytic DRD2 with a DRD2 antagonist dehydrocorybulbine remarkably inhibits the inflammatory response in mice lacking neuronal Drd2. Together, our findings reveal previously an uncharted role for DRD2 in astrocyte activation during EAE-associated CNS inflammation. Its therapeutic inhibition may provide a potent lever to alleviate autoimmune diseases.
MeSH term(s)	Animals ; Astrocytes/metabolism ; Disease Models, Animal ; Encephalomyelitis, Autoimmune, Experimental ; Inflammation/pathology ; Mice ; Mice, Inbred C57BL ; Multiple Sclerosis/pathology ; Receptors, Dopamine D2/metabolism
Chemical Substances	DRD2 protein, mouse ; Receptors, Dopamine D2
Language	English
Publishing date	2022-07-25
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	218343-2
ISSN	1540-9538 ; 0022-1007
ISSN (online)	1540-9538
ISSN	0022-1007
DOI	10.1084/jem.20210998
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Ua VI Zs.107: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.

Ma, Mengqi / Zhang, Xi / Zheng, Yiming / Lu, Shenzhao / Pan, Xueyang / Mao, Xiao / Pan, Hongling / Chung, Hyung-Lok / Wang, Hua / Guo, Hong / Bellen, Hugo J

Human molecular genetics

2022 Volume 32, Issue 6, Page(s) 984–997

Abstract: SUPT16H encodes the large subunit of the FAcilitate Chromatin Transcription (FACT) complex, which functions as a nucleosome organizer during transcription. We identified two individuals from unrelated families carrying de novo missense variants in ... ...

Abstract	SUPT16H encodes the large subunit of the FAcilitate Chromatin Transcription (FACT) complex, which functions as a nucleosome organizer during transcription. We identified two individuals from unrelated families carrying de novo missense variants in SUPT16H. The probands exhibit global developmental delay, intellectual disability, epilepsy, facial dysmorphism and brain structural abnormalities. We used Drosophila to characterize two variants: p.T171I and p.G808R. Loss of the fly ortholog, dre4, causes lethality at an early developmental stage. RNAi-mediated knockdown of dre4 in either glia or neurons causes severely reduced eclosion and longevity. Tissue-specific knockdown of dre4 in the eye or wing leads to the loss of these tissues, whereas overexpression of SUPT16H has no dominant effect. Moreover, expression of the reference SUPT16H significantly rescues the loss-of-function phenotypes in the nervous system as well as wing and eye. In contrast, expression of SUPT16H p.T171I or p.G808R rescues the phenotypes poorly, indicating that the variants are partial loss-of-function alleles. While previous studies argued that the developmental arrest caused by loss of dre4 is due to impaired ecdysone production in the prothoracic gland, our data show that dre4 is required for proper cell growth and survival in multiple tissues in a cell-autonomous manner. Altogether, our data indicate that the de novo loss-of-function variants in SUPT16H are indeed associated with developmental and neurological defects observed in the probands.
MeSH term(s)	Animals ; Cell Survival ; Neurodevelopmental Disorders/genetics ; Intellectual Disability/genetics ; Epilepsy ; Mutation, Missense ; Brain Diseases ; Drosophila
Language	English
Publishing date	2022-10-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddac259
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Zs.A 3469: Show issues

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Article ; Online: Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.

Huang, Yan / Ma, Mengqi / Mao, Xiao / Pehlivan, Davut / Kanca, Oguz / Un-Candan, Feride / Shu, Li / Akay, Gulsen / Mitani, Tadahiro / Lu, Shenzhao / Candan, Sukru / Wang, Hua / Xiao, Bo / Lupski, James R / Bellen, Hugo J

Human molecular genetics

2022 Volume 31, Issue 16, Page(s) 2751–2765

Abstract: The Roundabout (Robo) receptors, located on growth cones of neurons, induce axon repulsion in response to the extracellular ligand Slit. The Robo family of proteins controls midline crossing of commissural neurons during development in flies. Mono- and ... ...

Abstract	The Roundabout (Robo) receptors, located on growth cones of neurons, induce axon repulsion in response to the extracellular ligand Slit. The Robo family of proteins controls midline crossing of commissural neurons during development in flies. Mono- and bi-allelic variants in human ROBO1 (HGNC: 10249) have been associated with incomplete penetrance and variable expressivity for a breath of phenotypes, including neurodevelopmental defects such as strabismus, pituitary defects, intellectual impairment, as well as defects in heart and kidney. Here, we report two novel ROBO1 variants associated with very distinct phenotypes. A homozygous missense p.S1522L variant in three affected siblings with nystagmus; and a monoallelic de novo p.D422G variant in a proband who presented with early-onset epileptic encephalopathy. We modeled these variants in Drosophila and first generated a null allele by inserting a CRIMIC T2A-GAL4 in an intron. Flies that lack robo1 exhibit reduced viability but have very severe midline crossing defects in the central nervous system. The fly wild-type cDNA driven by T2A-Gal4 partially rescues both defects. Overexpression of the human reference ROBO1 with T2A-GAL4 is toxic and reduces viability, whereas the recessive p.S1522L variant is less toxic, suggesting that it is a partial loss-of-function allele. In contrast, the dominant variant in fly robo1 (p.D413G) affects protein localization, impairs axonal guidance activity and induces mild phototransduction defects, suggesting that it is a neomorphic allele. In summary, our studies expand the phenotypic spectrum associated with ROBO1 variant alleles.
MeSH term(s)	Animals ; Axons/metabolism ; Drosophila/metabolism ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Humans ; Nerve Tissue Proteins/metabolism ; Neurodevelopmental Disorders/genetics ; Receptors, Immunologic/metabolism ; Roundabout Proteins
Chemical Substances	Drosophila Proteins ; Nerve Tissue Proteins ; Receptors, Immunologic
Language	English
Publishing date	2022-03-28
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddac070
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