肺表面活性物质代谢
中文名称
通路描述
肺泡区域形成广泛的上皮表面,介导出生后呼吸所需的氧气和二氧化碳转移。I 型上皮细胞形成肺泡表面并介导气体交换。II 型上皮细胞分泌肺表面活性物质,这是一种脂蛋白复合物,形成薄界面膜,降低肺泡气液界面的表面张力,维持肺泡的结构完整性,防止其在低体积下塌陷(Agassandian & Mallampalli 2013)。出生前表面活性物质产生增加,以准备出生时呼吸空气(Hallman 2013)。早产儿由于 II 型上皮细胞尚未完全分化,产生的表面活性物质不足,可能导致呼吸窘迫综合征。表面活性物质主要由富含磷脂的磷脂酰胆碱(PC)和磷脂酰甘油(PG)组成(Agassandian & Mallampalli 2013),以及肺表面活性蛋白 A、B、C 和 D(SFTPA-D)。它们调节表面活性物质的稳态,有助于脂质在肺泡中的物理结构,并调节表面活性物质的功能和代谢。SFTPA 和 D 是大分子亲水性蛋白,而 SFTPB 和 C 是小分子非常疏水性蛋白(Johansson et al. 1994)。除了表面活性物质功能外,SFTPA 和 D 在先天宿主防御中发挥重要作用,通过结合并清除入侵的微生物从肺部(Kingma & Whitsett 2006)。此处描述了表面活性物质的核调节、运输、代谢、再利用和降解(Ikegami 2006, Boggaram 2009, Whitsett et al. 2010)。参与这些过程的基因突变可导致呼吸窘迫综合征、肺蛋白症、间质性肺疾病和慢性肺疾病(Perez-Gil & Weaver 2010, Whitsett et al. 2010, Akella & Deshpande 2013, Jo 2014)。
英文描述
Neurodegeneration is generally defined as progressive, irreversible loss of neurons, which may affect either the peripheral or central nervous system (CNS). Neurodegenerative diseases (NDs) include highly debilitating illnesses, such as Alzheimer (AD), Parkinson disease (PD), amyotrophic lateral sclerosis, Huntington disease, spinocerebellar ataxias, and prion diseases (PrD). The hallmark event, which is thought to be at the root of these diseases, is the progressive accumulation of misfolded protein aggregates. Major basic processes include abnormal protein dynamics due to deficiency of the ubiquitin-proteosome-autophagy system, oxidative stress and free radical formation, endoplasmic reticulum stress, mitochondrial dysfunction and (secondary) disruptions of axonal transport.
所含基因
479 个基因
ACTR10
ACTR1A
ACTR1B
ADRM1
AGER
ALS2
AMBRA1
APAF1
APC
APC2
APP
ARAF
ATF4
ATF6
ATG101
ATG13
ATG14
ATG2A
ATG2B
ATP2A1
ATP2A2
ATP2A3
ATP5F1A
ATP5F1B
ATP5F1C
ATP5F1D
ATP5F1E
ATP5MC1
ATP5MC2
ATP5MC3
ATP5PB
ATP5PD
ATP5PF
ATP5PO
ATP6
ATP8
ATXN1
ATXN1L
ATXN2
ATXN2L
ATXN3
ATXN3L
AXIN1
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BAD
BAK1
BAX
BCL2
BCL2L1
BDNF
BECN1
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BID
BRAF
CACNA1B
CACNA1C
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CACNA1S
CALM1
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CALM3
CALML3
CALML4
CALML5
CALML6
CAMK2A
CAMK2B
CAMK2D
CAMK2G
CAPN1
CAPN2
CASP12
CASP3
CASP7
CASP8
CASP9
CAT
CCS
CDK5
CDK5R1
CHMP2B
CHRFAM7A
CHRM1
CHRM3
CHRM5
CHRNA7
COX1
COX2
COX3
COX4I1
COX4I2
COX5A
COX5B
COX6A1
COX6A2
COX6B1
COX6B2
COX6C
COX7A1
COX7A2
COX7A2L
COX7B
COX7B2
COX7C
COX8A
COX8C
COXFA4
COXFA4L2
CSF1
CSNK1A1
CSNK1A1L
CSNK1E
CSNK2A1
CSNK2A2
CSNK2A3
CSNK2B
CTNNB1
CYBB
CYC1
CYCS
CYTB
DAXX
DCTN1
DCTN2
DCTN3
DCTN4
DCTN5
DCTN6
DDIT3
DERL1
DKK1
DKK2
DKK4
DLG4
DNAH1
DNAH10
DNAH11
DNAH12
DNAH14
DNAH17
DNAH2
DNAH3
DNAH5
DNAH6
DNAH7
DNAH8
DNAH9
DNAI1
DNAI2
DNAL1
DNAL4
DNALI1
DVL1
DVL2
DVL3
EIF2AK3
EIF2S1
ERN1
FADD
FAS
FASLG
FIG4
FRAT1
FRAT2
FUS
FZD1
FZD10
FZD2
FZD3
FZD4
FZD5
FZD6
FZD7
FZD8
FZD9
GNAQ
GPR37
GPX1
GPX2
GPX3
GPX5
GPX6
GPX7
GPX8
GRIA1
GRIA2
GRIA3
GRIA4
GRIN1
GRIN2A
GRIN2B
GRIN2C
GRIN2D
GRM1
GRM5
GSK3B
HAP1
HIP1
HRAS
HSD17B10
HSPA5
HTRA2
HTT
IFT57
IL1A
IL1B
IL6
ITPR1
ITPR2
ITPR3
KIF5A
KIF5B
KIF5C
KLC1
KLC2
KLC3
KLC4
KRAS
LOC107984365
LRP5
LRP6
LRRK2
MAP1LC3A
MAP1LC3B
MAP1LC3B2
MAP1LC3BP1
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MAP2K1
MAP2K2
MAP2K3
MAP2K6
MAP2K7
MAP3K10
MAP3K5
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MAPK10
MAPK11
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MAPK8
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MAPT
MCU
MFN1
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MTOR
ND1
ND2
ND3
ND4
ND4L
ND5
ND6
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA13
NDUFA2
NDUFA3
NDUFA5
NDUFA6
NDUFA7
NDUFA8
NDUFA9
NDUFAB1
NDUFB1
NDUFB10
NDUFB11
NDUFB2
NDUFB3
NDUFB4
NDUFB5
NDUFB6
NDUFB7
NDUFB8
NDUFB9
NDUFC1
NDUFC2
NDUFC2-KCTD14
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS5
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NDUFV3
NEFH
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NEFM
NFKB1
NOS1
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NOX1
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NRAS
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OPTN
PARK7
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PIK3C3
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PINK1
PLCB1
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PPP3CA
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PPP3R1
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PRKCA
PRKCB
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PRKN
PRNP
PRPH
PSEN1
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PSMA1
PSMA2
PSMA3
PSMA4
PSMA5
PSMA6
PSMA7
PSMA8
PSMB1
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PSMB3
PSMB4
PSMB5
PSMB6
PSMB7
PSMC1
PSMC2
PSMC3
PSMC4
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PSMC6
PSMD1
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PSMD12
PSMD13
PSMD14
PSMD2
PSMD3
PSMD4
PSMD6
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PSMD8
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PTGS2
RAB1A
RAB39B
RAB5A
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RAC1
RAF1
RB1CC1
RELA
RPS27A
RYR1
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SDHA
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SMCR8
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SPG11
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STX1A
TANK
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TOMM40
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TPTEP2-CSNK1E
TRAF2
TRAP1
TRPC3
TUBA1A
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TUBA3C
TUBA3D
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TUBA4A
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UBA1
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UBE2G1
UBE2G2
UBE2J1
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UBE2L3
UBE2L6
UCHL1
ULK1
ULK2
UQCR10
UQCR11
UQCRB
UQCRC1
UQCRC2
UQCRFS1
UQCRH
UQCRHL
UQCRQ
VAPB
VCP
VDAC1
VDAC2
VDAC3
WDR41
WIPI1
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WNT1
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WNT11
WNT16
WNT2
WNT2B
WNT3
WNT3A
WNT4
WNT5A
WNT5B
WNT6
WNT7A
WNT7B
WNT8A
WNT8B
WNT9A
WNT9B
XBP1
ZFYVE1